Cutis marmorata telangiectatica congenita with limb defects, cleft palate, and ambiguous genitalia

Abstract

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, vascular malformation first described by van Lohuizen in 1922. CMTC is an infrequently reported congenital cutaneous disorder and is usually present at birth but can appear up to 3 months to 2 years of age. Hereby, we report a case of a 2-day-old infant with CMTC involving trunk with rarely reported congenital anomaly involving multiple system, i.e., musculoskeletal, cardiovascular, pulmonary, ophthalmic, excretory, oropharyngeal, and reproductive system.

Keywords

• ambiguous genitalia
• cleft palate
• cutis marmorata telangiectatica congenita
• limb defects
• polydactyly