Two sisters with prenatal growth failure, disproportionate short stature, and feeding difficulties.
A familial short stature syndrome is described in two sisters. Clinical features include severe pre- and post-natal growth failure, stridor, feeding difficulties in the first 2 years requiring nasogastric feeding and facial dysmorphism reminiscent of Three M syndrome. Intellectual function is normal. Skeletal surveys show short long bones, small square iliac bones, short femoral necks and vertebral bodies which are short in the antero-posterior diameter with narrowing of the interpedicular distance inferiorly.
Cameron
F M
FM
Department of Child Health, Royal Hospital for Sick Children, Glasgow, UK.
Cameron
A D
AD
Crampin
L
L
Tolmie
J L
JL
Wilkinson
A G
AG
Donaldson
M D
MD
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics; D004750:Enteral Nutrition; D019959:Feeding and Eating Disorders of Childhood / Q000235:genetics* / Q000628:therapy; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D011859:Radiography; D012135:Respiratory Sounds / Q000235:genetics; D013577:Syndrome