Development

Theme : Stature A. Achondroplasia B. Anorexia nervosa C. Constitutional delay D. Cornelia-de-Lange syndrome E. Familial short stature F. Growth hormone deficiency G. Primordial dwarfism H. Psychosocial poor growth I. Prader-Willi syndrome J. Russell-silver dwarfism Select the most appropriate diagnosis from the above options to explain the following presentations: 1) A child has short stature, a triangular face and facial and limb length asymmetry. J. Russell-silver dwarfism

Note: describes a child with Russell silver syndrome. A condition of short stature, hemi-hypertrophy and the child often has triangular facies, frontal bossing and clinodactyly of the 5th finger.

2) A child has short stature and is noted to have a large head with a prominent forehead.

A. Achondroplasia

Note: describes a child with achondroplasia. Short stature, rhizomelia (short limbs especially the proximal part). Affected individuals usually have a large head with hydrocephalus being a complication.

3) A baby is born on the 50th centile for height and weight. By the age of 2 her length has fallen to the 2nd centile and weight remains on the 50th. She has a rounded face with small hands and feet.

F. Growth hormone deficiency

Note: describes a growth hormone deficient child. Early recognition and initiation of treatment is required to reach satisfactory adult height.

Theme : Stature A. Achondroplasia B. Anorexia nervosa C. Constitutional delay D. Cornelia-de-Lange syndrome E. Familial short stature

Development

F. Growth hormone deficiency G. Primordial dwarfism H. Psychosocial poor growth I. Prader-Willi syndrome J. Russell-silver dwarfism Select the most appropriate diagnosis from the above options to explain the following presentations: 1) A 9 year old boy statemented for special educational needs is investigated for short stature. He has a weight over the 91st centile. He is noted to have small hands and feet and hypogonadism. I. Prader-Willi syndrome

Note: describes a child with Prader-Willi syndrome. A condition characterised by obesity after the first year of life. Hypotonia, hypogonadism and learning difficulties due to a deletion of chromosome 15 (the deletion occurring in the paternal gene, if the deletion of chromosome 15 in the child was inherited from the mother the child would have the phenotype of Angelman's syndrome).

2) A 15 year old girl in foster care is referred to outpatients because of delayed puberty. On examination her weight is on the 2nd centile and her height is on the 25th centile. She has poor dentition and her temperature is measured at 35C.

B. Anorexia nervosa

Note: describes an adolescent girl with anorexia nervosa. A condition due to fear of becoming obese or disturbed body image. There is usually a tendency to deny hunger, excessive dieting, laxative abuse or excessive physical activity. The diagnosis is classified as weight of 15% below that expected for age and height and is associated with physical characteristics including amenorrhoea, bradycardia, hypothermia and electrolyte disturbances.

3) A 7 year old girl presents with short stature with weight being on the 9th centile and height less than 0.4th centile. Examination is normal as well as all investigations including a bone age, which is compatible with her chronological age. Her mother is 51 (134cm), her father is 55 (143cm).

E. Familial short stature

Note: describes a child with familial short stature. From the measurements of the parents the child's height is compatible with this diagnosis. It is expected that most children will reach a height within 8cms of the mid-parental height centile.

Development