The first feature is extreme intrauterine growth
retardation with normal head circumference, sometimes referred as
pseudohydrocephalus. The characteristic facial features are craniofacial
disproportion, delayed fontanel closure, triangular facies, turned-down
mouth corners, and micrognathia. Asymmetry of arms and/or legs causes
hemihypertrophy and lateral asymmetry. Fifth finger clinodactyly and
syndactyly of toes are observed. The radiology findings are usually fifth
finger middle or distal phalangeal hypoplasia, ivory epiphyses, second
metacarpal pseudoepiphysis, vertebral abnormalities, absent sacrum, and
absent coccyx. Hypoglycemia at birth and even after is common. Café-au-lait spots,
precocious sexual development, and cryptorchism are frequent. Cardiac defects can be
observed. Gastrointestinal manifestations are now known to be a part of the disease
(gastroesophageal reflux, esophagitis, food aversion, and failure to thrive).
Susceptibility to malignancies is higher. Normal intelligence is the rule with some delay
in the early motor milestones because of the decreased muscle bulk and relatively large
head. The children remain thin with a lack of subcutaneous fat. Therapeutic trials with
growth hormone have not corrected the growth pattern.