Development

Theme : Stature A. Achondroplasia B. Anorexia nervosa C. Constitutional delay D. Cornelia-de-Lange syndrome E. Familial short stature F. Growth hormone de iciency G. !rimordial dwar ism ". !sychosocial poor growth #. !rader-$illi syndrome %. &ussell-silver dwar ism Select the most appropriate diagnosis from the above options to explain the following presentations: 1) A child has short stature' a triangular ace and acial and lim( length asymmetry. %. &ussell-silver dwar ism

Note: descri(es a child with &ussell )silver syndrome. A condition o short stature' hemi-hypertrophy and the child o ten has triangular acies' rontal (ossing and clinodactyly o the *th inger. 2) A child has short stature and is noted to have a large head with a prominent orehead. A Achondroplasia

Note: descri(es a child with achondroplasia. +hort stature' rhi,omelia -short lim(s especially the proximal part.. A ected individuals usually have a large head with hydrocephalus (eing a complication. !) A (a(y is (orn on the */th centile or height and weight. By the age o 0 her length has allen to the 0nd centile and weight remains on the */th. +he has a rounded ace with small hands and eet. F. Growth hormone de iciency

Note: descri(es a growth hormone de icient child. Early recognition and initiation o treatment is re1uired to reach satis actory adult height.

Theme : Stature A. Achondroplasia B. Anorexia nervosa C. Constitutional delay D. Cornelia-de-Lange syndrome E. Familial short stature F. Growth hormone de iciency G. !rimordial dwar ism ". !sychosocial poor growth #. !rader-$illi syndrome %. &ussell-silver dwar ism Select the most appropriate diagnosis from the above options to explain the following presentations:

Development

1) A 2 year old (oy statemented or special educational needs is investigated or short stature. "e has a weight over the 23st centile. "e is noted to have small hands and eet and hypogonadism.

#. !rader-$illi syndrome

Note: descri(es a child with !rader-$illi syndrome. A condition characterised (y o(esity a ter the irst year o li e. "ypotonia' hypogonadism and learning di iculties due to a deletion o chromosome 3* -the deletion occurring in the paternal gene' i the deletion o chromosome 3* in the child was inherited rom the mother the child would have the phenotype o Angelman4s syndrome.. 2) A 3* year old girl in oster care is re erred to outpatients (ecause o delayed pu(erty. 5n examination her weight is on the 0nd centile and her height is on the 0*th centile. +he has poor dentition and her temperature is measured at 6*7C. B. Anorexia nervosa

Note: descri(es an adolescent girl with anorexia nervosa. A condition due to ear o (ecoming o(ese or distur(ed (ody image. 8here is usually a tendency to deny hunger' excessive dieting' laxative a(use or excessive physical activity. 8he diagnosis is classi ied as weight o 3*9 (elow that expected or age and height and is associated with physical characteristics including amenorrhoea' (radycardia' hypothermia and electrolyte distur(ances. !) A : year old girl presents with short stature with weight (eing on the 2th centile and height less than /.;th centile. Examination is normal as well as all investigations including a (one age' which is compati(le with her chronological age. "er mother is *<3 -36;cm.' her ather is *<* -3;6cm.. E. Familial short stature

Note: descri(es a child with amilial short stature. From the measurements o the parents the child4s height is compati(le with this diagnosis. #t is expected that most children will reach a height within =cms o the midparental height centile.

Development