A Mongolian spot can be present in new born babies which usually appears over the back and fades with time. There is nothing to worry about.

Exposure to excessive androgens is usually accompanied by premature epiphyseal maturation and closure, resulting in a final adult height that is typically significantly below that expected from parental heights. congenital adrenal hyperplasia (CAH) is associated with precocious puberty caused by long term exposure to androgens, which activate the hypothalamic-pituitary-gonadal axis. Similarly, CAH is associated with hyperpigmentation and hyperreninemia due to sodium loss and hypovolaemia.

The age of the patient and the presence of immature white blood cells are suggestive of leukaemia. Hodgkin’s disease is unlikely in this age group and it usually presents with lymphadenopathy. In HIV, immature white blood cells are not present in the blood.

Answer: Oculogyric crisisOculogyric crisis is an acute dystonic reaction of the ocular muscles characterized by bilateral dystonic elevation of visual gaze lasting from seconds to hours. This reaction is most commonly explained as an adverse reaction to drugs such as antiemetics, antipsychotics, antidepressants, antiepileptics, and antimalarials. Metoclopramide is a benzamide selective dopamine D2 receptor antagonist that is used as an antiemetic, with side effects that are seen frequently in children.1 The most common and most important side effects of metoclopramide are acute extrapyramidal symptoms, which require immediate treatment. Acute dystonic reactions occur as contractions of the muscles, opisthotonos, torticollis, dysarthria, trismus, and oculogyric crisis.

Lead Poisoning Symptoms: Abdominal pain, bluish line on the gums (Burton line), wrist/foot drop, anaemia, nephropathy, encephalopathy, cognitive impairmentDiagnosis: Detectable in bloodBasophilic stippling of erythrocytes (disorder of heme synthesis) on smearTreatment: Succimer, Dimercaprol, EDTA

Based on the clinical scenario, the most likely underlying pathogen is the Epstein Barr virus (EBV).An Epstein Barr virus (EBV) infection most commonly results in upper respiratory tract symptoms with fever and sore throat. Lymphadenopathy is frequently palpable on examination. Splenomegaly may also occur, and for this reason, patients diagnosed with glandular fever should be advised to avoid contact sports for one month following diagnosis. The presence of petechiae on the soft palate is also associated with EBV infection. The vast majority of patients with active EBV infection will develop a widespread rash if given amoxicillin, therefore, phenoxymethylpenicillin (Penicillin V) is recommended for the treatment of a suspected bacterial throat infection to prevent this complication occurring for individuals who have EBV infection.Other options:- Coronavirus: This is one of the causes of the common cold and is frequently responsible for sore throats| however, in this case, the presenting features are more suggestive of an EBV infection.- Group A Streptococcus: Streptococci are classified into two main groups| alpha-haemolytic and beta-haemolytic. Group A Streptococcus belongs to the beta-haemolytic group. Group A streptococcal infection is a common cause of bacterial tonsillitis. It is possible that the child, in this case, had streptococcal tonsillitis and has had a drug reaction to the amoxicillin. However her age, flu-like symptoms and petechiae on her palate all point to an EBV infection and amoxicillin resulting in a rash.- Parainfluenza: Parainfluenza viruses are one of many causes of the common cold and can cause pharyngitis. They are the leading cause of viral croup.- Rhinovirus: Rhinoviruses are one of many causes of the common cold and are frequently responsible for sore throats| however, in this case, are other factors suggesting EBV infection.

Bernard- Soulier Syndrome results from a deficiency of platelet glycoprotein protein Ib, which mediates the initial interaction of platelets with the subendothelial components via the von Willebrand protein. It is a rare but severe bleeding disorder. Platelets do not aggregate to ristocetin. The platelet count is low, but, characteristically, the platelets are large, often the size of red blood cells, and may be missed on complete blood counts because most automatic counters do not count them as platelets.

Food poisoning is defined as an illness caused by the consumption of food or water contaminated with bacteria and/or their toxins, or with parasites, viruses, or chemicals. The most common pathogens are Norovirus, Escherichia coli, Salmonella, Clostridium perfringens, Campylobacter, and Staphylococcus aureus.The following are some of the salient features of food poisoning:Acute diarrhoea in food poisoning usually lasts less than 2 weeks. Diarrhoea lasting 2-4 weeks is classified as persistent. Chronic diarrhoea is defined by duration of more than 4 weeks.The presence of fever suggests an invasive disease. However, sometimes fever and diarrhoea may result from infection outside the GI tract, as in malaria.A stool with blood or mucus indicates invasion of the intestinal or colonic mucosa.Reactive arthritis can be seen with Salmonella, Shigella, Campylobacter, and Yersinia infections.A profuse rice-water stool suggests cholera or a similar process.Abdominal pain is most severe in inflammatory processes. Painful abdominal cramps suggest underlying electrolyte loss, as in severe cholera.A history of bloating should raise the suspicion of giardiasis.Yersinia enterocolitis may mimic the symptoms of appendicitis.Proctitis syndrome, seen with shigellosis, is characterized by frequent painful bowel movements containing blood, pus, and mucus. Tenesmus and rectal discomfort are prominent features.Consumption of undercooked meat/poultry is suspicious for Salmonella, Campylobacter, Shiga toxin E coli, and C perfringens.Consumption of raw seafood is suspicious for Norwalk-like virus, Vibrioorganism, or hepatitis A.Consumption of homemade canned foods is associated with C botulinum.Consumption of unpasteurized soft cheeses is associated with Listeria, Salmonella, Campylobacter, Shiga toxin E coli, and Yersinia.Consumption of deli meats notoriously is responsible for listeriosis.Consumption of unpasteurized milk or juice is suspicious for Campylobacter, Salmonella, Shiga toxin E coli, and Yersinia.Salmonella has been associated with consumption of raw eggs.

Leiner disease belongs to a heterogeneous group of disorders associated with permanent or temporary complement C5 plasma deficiency. It is a rare disease that follows an autosomal recessive pattern of transmission. It is prevalent in female, breast-fed babies. The hallmark of this syndrome is severe diarrhoea, severe generalized seborrheic dermatitis, central nervous system defects, marked wasting, recurrent local and systemic infections, and failure to thrive.

Transient tachypnoea of the new-born is a condition associated with the delayed clearance of amniotic fluid from the new-born. The X-ray findings are typical of this condition. As the name implies and was noted in this patient, it is not a lasting condition and resolves within 24-72 hours after birth. The differential diagnoses usually present with different chest X-ray findings:- Aspiration pneumonia shows infiltrates in the lower lobes of the lungs- Congenitally acquired pneumonia shows patchy, asymmetrical densities- Meconium aspiration shows hyperinflation and patchy asymmetric airspace disease- Pulmonary oedema shows cephalization of pulmonary veins and indistinctness of the vascular margins.

All of the presenting features of the child are suggestive raised intracranial pressure. Thus, urgent treatment with 20% Mannitol can improve the child’s condition. Mannitol is an osmotic diuretic that is used in the treatment of raised intracranial pressure. It should be avoided in hypovolaemia because of its diuretic effects. Other options:- Head up at 15°: Keeping the head up at 20° in the midline will aid venous drainage. – Maintain CO2 at 5 kPa: If there is an acute rise in intracranial pressure, then lowering the CO2 to 4–4.5 kPa as a temporary measure can be beneficial. However, this must be only short-lived since it causes vasoconstriction and can impair cerebral blood flow. – 10% glucose bolus: Maintaining normoglycemia in traumatic brain injury is important. – 0.9% saline infusion: Hypertonic saline infusion of 3% can reduce intracranial pressure. 0.9% saline as a bolus could be beneficial if there were hypotension.

A surgeon will observe the patient and will decide which procedure he needs.

Lichen sclerosus is a common chronic skin disorder that most often affects genital and perianal areas. LS typically presents with vulval itching and clinical findings of pallor, epidermal atrophy (cigarette paper wrinkling), purpura, and/or erosions.Lichen sclerosus (LS) and lichen planus (LP) are both immunologically mediated diseases with a preference for the genitalia. The main difference between the two conditions is that LP has a propensity to involve the mucous membranes including the mouth and vagina which are rarely affected in LS.

Maternal smoking is one of the most significant risk factors for pyloric stenosis.Remember the three Ps for Pyloric Stenosis:P – palpable massP – peristalsisP – projectile vomiting

Mild learning disabilities indicates an IQ = 50-70, or mental age of 9-12 years
Moderate learning disabilities indicates an IQ = 35-49, or mental age of 6-9 years
Severe learning disabilities indicates an IQ = 20-34, or mental age of 3-6 years
Profound learning disabilities indicates an IQ = 20, or mental age of less than 3 years
Average IQ is 100. The arbitrary cut-off to indicate learning disabilities is 70.

The progesterone is primarily responsible for preventing pregnancy. The main mechanism of action is the prevention of ovulation| they inhibit follicular development and prevent ovulation. Progestogen negative feedback works at the hypothalamus to decreases the pulse frequency of gonadotropin-releasing hormone. This, in turn, will decrease the secretion of follicle-stimulating hormone (FSH) and decreases the secretion of luteinizing hormone (LH). If the follicle isn’t developing, then there is no increase in the oestradiol levels (the follicle makes oestradiol). The progestogen negative feedback and lack of oestrogen positive feedback on LH secretion stop the mid-cycle LH surge. With no follicle developed and no LH surge to release the follicle, there is the prevention of ovulation. Oestrogen has some effect with inhibiting follicular development because of its negative feedback on the anterior pituitary with slows FSH secretion| it’s just not as prominent as the progesterone’s effect. Another primary mechanism of action is progesterone’s ability to inhibit sperm from penetrating through the cervix and upper genital tract by making the cervical mucous unfriendly. Progesterone induced endometrial atrophy should deter implantation, but there is no proof that this occurs.

Immunoglobulin G (IgG) glomerular immune deposits are seen more commonly in HSP compared to IgA nephropathy.The presentation of the child is highly suggestive of Henoch-Schönlein purpura (HSP). It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints.It is most commonly seen in children aged 3 – 6years and is twice as common in boys than girls. Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection A.A purpuric rash is seen on the back of the legs and buttocks and can less frequently, affect the arms. Arthralgia is common (usually knees/ankles) in these patients. Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure.Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

Angelman syndrome is a rare genetic and neurological disorder caused by deletion or abnormal expression of the UBE3A gene and characterized by severe developmental delay and learning disabilities| absence or near absence of speech| inability to coordinate voluntary movements (ataxia)| tremulousness with jerky movements of the arms and legs and a distinct behavioural pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits.

Bitemporal hemianopia is a characteristic finding seen in patients with optic chiasm lesion.The pituitary gland is situated within the pituitary fossa. Just above the pituitary fossa is the optic chiasm and so any expanding masses from the pituitary gland commonly press on it, causing bitemporal hemianopia.Other options:- Compression of the optic nerve would not cause more severe, generalised visual loss. Also, the optic nerve is not anatomically related to the pituitary gland and so is unlikely to be directly compressed in the presence of a pituitary tumour.- The optic tract is again not closely anatomically related with the pituitary gland and so is unlikely to be directly compressed in the presence of a pituitary tumour. Also, damage to the optic tract on one side would cause homonymous hemianopia.- The lateral geniculate nucleus is a centre of cells in the thalamus and is unlikely to be compressed by a pituitary tumour. Its function is to convey sensory information from the optic tract to more central parts of the visual pathway.- The Edinger-Westphal nucleus is located at the level of the superior colliculus in the midbrain and so may not be compressed by an enlarging pituitary tumour.Other visual defects:- Left homonymous hemianopia: It is the visual field defect to the left, due to the lesion of the right optic tract.- Homonymous quadrantanopias are seen in parietal (inferior homonymous quadrantopia) and temporal lobe lesions (superior homonymous quadrantopia). Mnemonic: PITS (Parietal-Inferior, Temporal-Superior)A congruous defect means complete or symmetrical visual field loss, and conversely, an incongruous defect is incomplete or asymmetric.Incongruous defects suggest an optic tract lesion, while congruous defects suggest optic radiation or occipital cortex lesion.

Coverings of the spermatic cord:Spermatic cord is covered by three concentric layers of fasciae, derived from the layers the of anterior abdominal wall. Developmentally, each covering is acquired as the processus vaginalis descends into the scrotum through the layers of the abdominal wall. The layers are:External spermatic fascia: It is derived from the external oblique muscle. It attaches to the margins of superficial inguinal ring.Cremasteric fascia: It is derived from the internal oblique muscle. It covers the cremaster muscle.Internal spermatic fascia: It is derived from the fascia transversalis (fascia covering the transversus abdominis muscle). It is attached to the margins of the deep inguinal ring.

Recurrent bacterial infections may be due to lack of B-cell function, consequently resulting in a lack of gamma globulins production. Once the maternal antibodies have depleted, the disease manifests with greater severity and is called x-linked agammaglobulinemia also known as ‘X-linked hypogammaglobulinemia’, ‘XLA’ or ‘Bruton-type agammaglobulinemia. it is a rare x linked genetic disorder that compromises the bodies ability to fight infections.
Acute leukaemia causes immunodeficiency but not so specific.
DiGeorge syndrome is due to lack of T cell function.
Aplastic anaemia and EBV infection does not cause immunodeficiency.

Unprotected anal or vaginal sexual intercourse with an infected individual is by far the most common (95%) route by which HIV is transmitted. Other options:- Blood transfusion is an extremely rare cause of HIV transmission in the UK. – While HIV can be transmitted from mother to baby either during birth or via breastfeeding, the transmission rate is only 5 – 20%.- Sharing contaminated needles does put individuals at risk of getting HIV, although public health measures are in place to reduce this risk. – Although HIV can be transmitted via this route, it is around ten times less likely to result in transmission than unprotected anal or vaginal intercourse with an infected individual.

Turner syndrome is a genetic disease that affects females. It presents with wide-spread nipples, low hairline, lymphoedema, short 4th metacarpals, high-arched palate, cardiac problems, and horseshoe kidneys.

Pierre Robin sequence is a condition present at birth, in which the infant has micrognathia, a tongue that is placed further back than normal (glossoptosis), and cleft palate. This combination of features can lead to difficulty breathing and problems with eating early in life. Pierre Robin sequence may occur isolated or be associated with a variety of other signs and symptoms (described as syndromic). The exact causes of Pierre Robin syndrome are unknown. The most common otic anomaly is otitis media, occurring 80% of the time, followed by auricular anomalies in 75% of cases. Hearing loss, mostly conductive, occurs in 60% of patients, while external auditory canal atresia occurs in only 5% of patients.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in type IV collagen genes (COL4A5) and are inherited in an X-linked autosomal recessive pattern, although other inheritance patterns exist. Alport syndrome has autosomal dominant inheritance in about 5 percent of cases.

People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (haematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD).

People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss.

Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.

Meckel’s diverticulum is a true diverticulum and is the most common congenital anomaly of the GI tract, occurring in about 2% of people. It is caused by incomplete obliteration of the vitelline duct and consists of a congenital sacculation of the antimesenteric border of the ileum. Symptoms are uncommon but include lower GI bleeding, bowel obstruction, and inflammation (diverticulitis). Causes of upper GI bleeding in neonates:Swallowed maternal bloodCoagulopathies including haemorrhagic disease of the new-bornStress gastritis & stress ulcersDrugs (NSAIDs, heparin, indomethacin used for patent duct closure, dexamethasone)Causes of upper GI bleeding in children 1 month to 1 year:GORDGastritis (with or without Helicobacter pylori infection)Crohn diseaseDrugs (NSAIDs)Zollinger-Ellison syndromeCauses of upper GI bleeding in children 1 -2 years:Peptic ulcer diseaseZollinger-Ellison syndromeBurns (Curling ulcer)Head trauma (Cushing ulcer)SepsisCauses of upper GI bleeding in older than 2 years:Oesophageal varices secondary to portal hypertension (most commonly portal vein thrombosis and biliary atresia)Duodenal ulcersOesophagitisGastritisMallory-Weiss tears

The femoral nerve is the main nerve supply for the thigh muscles including the pectineus, iliacus, sartorius, which flex the hip| and the quadriceps femoris made up of the rectus femoris, vests laterals, vastus medialis and vastus intermedius, which extend the knee. The nerve is derived from the L2, L3 and L4 nerve roots, and supplies cutaneous branches to the anteromedial thigh and the medial side of the leg via the saphenous nerve.

The most probable cause for chronic parotitis in this patient would be HIV infection.Rationale:Chronic infectious parotitis is relatively uncommon in children. While mycobacterial infection can result in chronic parotitis, HIV is a relatively more common cause. The presentation should always prompt an HIV test. Other options:- While mumps is the most common cause of acute viral parotitis, the chronic nature of the boy’s presentation rules it out. – Acute bacterial parotitis is usually unilateral and is warm and tender to touch.

Based on the patient’s presentation, he’s probably suffering from Leiner’s diseaseLeiner’s disease is a severe generalised form of seborrhoeic dermatitis. It is also associated with recurrent diarrhoea, recurrent skin and internal infections, and failure to thrive.Seborrhoeic dermatitis is a common and self-limiting condition in childhood. Lesions affect the scalp (cradle cap), and sometimes the ear, nose, and eyebrows. It is characterised by greasy yellow or yellow-brown scales.There is an association with Malassezia, and the lesions are a reaction to this yeast, rather than caused by it.It is most common in the 6-12 month age group. Simple brushing with a soft bristle brush, use of oil or emollient, and ketoconazole 2% shampoo are all treatment options.

Language/Communication milestones of 2 years old:Points to things or pictures when they are named Knows names of familiar people and body parts Says sentences with 2 to 4 words Follows simple instructions Repeats words overheard in conversation Points to things in a book

Congenital heart defects are common (40-50%)| they are frequently observed in patients with Down syndrome who are hospitalized (62%) and are a common cause of death in this aneuploidy in the first 2 years of life.The most common congenital heart defects are the following:- Endocardial cushion defect (43%), which results in atrioventricular septal defect (AVSD)/AV canal defect- Ventricular septal defect (32%)- Secundum atrial septal defect (10%)- Tetralogy of Fallot (6%)- Isolated patent ductus arteriosus (4%).About 30% of patients have more than one cardiac defect. The most common secondary lesions are patent ductus arteriosus (16%), atrial septal defect, and pulmonic stenosis (9%). About 70% of all endocardial cushion defects are associated with Down syndrome.Valve abnormalities, such as mitral valve prolapse or aortic regurgitation may develop in up to 40-50% of adolescents and adults who were born without structural heart disease.

Cardiac notch: is an indentation on the left lung of the heart.
Coronary sinus: a venous sinus on the surface of the heart (the posterior aspect) that receives blood from the smaller veins that drain the heart.
Coronary sulcus: a groove on the heart between the atria and ventricles.
Transverse pericardial sinus: located behind the aorta and pulmonary trunk and anterior to the superior vena cava.
Oblique pericardial sinus: located behind the left atrium. Accessed from the inferior side (or the apex) of the heart upwards.
Horizontal pericardial sinus: this is a made-up term.

The Meckel’s diverticulum is a vestigial remnant of the omphalomesenteric duct. This structure is also referred to as the vitelline and contains two types of ectopic tissue, namely| gastric and pancreatic.

At the age of 6 months, children can begin to be weaned off breastmilk and formula feeds. One healthy and inexpensive way to do this is through infant led weaning as opposed to the conventional spoon feeding method. Children are able to enjoy a variety of soft finger foods even before they grow teeth, so all food does not need to be pureed or sweet. Children should however not be given cow’s milk until the age of 1 year.

4-year-old milestonesSocial and EmotionalEnjoys doing new things Plays “Mom” and “Dad” Is more and more creative with make-believe play Would rather play with other children than by himself Cooperates with other children Often can’t tell what’s real and what’s make-believe Talks about what she likes and what she is interested in Language/CommunicationKnows some basic rules of grammar, such as correctly using “he” and “she” Sings a song or says a poem from memory such as the “Itsy Bitsy Spider” or the “Wheels on the Bus” Tells stories Can say first and last nameCognitive (learning, thinking, problem-solving)Names some colours and some numbers Understands the idea of counting Starts to understand time Remembers parts of a story Understands the idea of “same” and “different” Draws a person with 2 to 4 body parts Uses scissors Starts to copy some capital letters Plays board or card games Tells you what he thinks is going to happen next in a book Movement/Physical DevelopmentHops and stands on one foot up to 2 seconds Catches a bounced ball most of the time Pours, cuts with supervision, and mashes own food

The most common physiological factors that influence renin secretion include renal perfusion pressure, renal sympathetic nerve activity, and tubular sodium chloride load.The perfusion pressure in the renal artery is the most profound parameter to influence renin secretion| when the renal perfusion pressure falls (i.e. hypovolaemia), renin secretion rises, and vice versa.

Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. This condition is inherited in an autosomal recessive pattern.Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage| the muscles, thyroid, pancreas, and testes may also be affected.There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis.Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The build-up of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men.The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age.

The most probable diagnosis for this patient would be external angular dermoid.External angular dermoids typically form where there are overlapping tissue planes such as the midline. They contain a caseous material. The cysts are essentially benign in nature and are excised for cosmetic purposes or when they encroach on vision.Other options:- Branchial remnant typically presents as a supraclavicular pit.- Sebaceous cysts tend to be present on the scalp.- There is nothing in the clinical scenario to suggest a vascular malformation such as pigment change or ‘bag of worms’.- Lymphatic malformations are typically found in the neck or under the axilla.

It is recommended that a woman wait one month after stopping isotretinoin before trying to become pregnant. Usually, isotretinoin is no longer found in a woman’s blood 4-5 days after the last dose and most of its by-products should be gone within 10 days after the last dose.

Advanced paternal age is associated with poor quality sperm leading to a reduction in overall fertility along with an increase in the occurrence of various medical disorders in the fetus. Advanced paternal age has been implicated as a risk factor for diseases like retinoblastoma, Marfan’s syndrome, neurofibromatosis, achondroplasia, autism spectrum disorders, schizophrenia, and acute lymphoblastic leukaemia. Down’s syndrome is mostly considered a consequence of advanced maternal age, but advanced paternal age has also been implicated as a risk factor. Turner syndrome is not found to be caused by advanced paternal age.