Searchable abstracts of presentations at key conferences in endocrinology

ea0022p210 | Clinical case reports and clinical practice | ECE2010

Two rare genetic causes of aberrant growth: Robinow syndrome with partial GH deficiency and dwarfism and Simpson-Golabi-Behmel syndrome with gigantism

Branisteanu Dumitru , Repede Ionut , Novac Roxana , Turliuc Serban , Mogos Simona , Turliuc Dana , Mogos Voichita

We describe two very rare genetic diseases characterized by particular physical features and deviation from normal growth. The first patient, CM, was admitted for delayed growth (113 cm at 8 years of age, -3 S.D.). The child had short lower arms with small hands and clinodactyly of the fifth finger. He had round widely spaced eyes with long eyelashes, a flat profile and prominent forehead, short upturned nose, misaligned teeth and gum hypertrophy. We diagnosed a...