TABLE 1.

Phenotypic Features of Our Patient

Organ system	Clinical findings
Head	Very large anterior and posterior fontanelles with widely open metopic suture, sparse frontolateral hair
Ears	Low-set ears, bilateral deep earlobe crease, hypertrophic antitragus, attached earlobes
Eyes	Downslanting palpebral fissures, midfacial hypoplasia with mild proptosis
Philtrum	Prominent philtrum with central ridge
Mouth	Broad alveolar ridges
Chest	Small nipples
Limbs	Bilateral III–V finger camptodactyly, long and thin fingers, II–IV toe camptodactyly, prominent heels
Genitalia	Indentation on clitoris, perianal groove, anterior placement of anus
Skin	Symmetric congenital circumferential skin folds of upper and lower limbs and back