Barber–Say Syndrome

Abstract

CASE REPORTA 1-week-old African infant male was admitted with an unusual constellation of findings. He was born after an uncomplicated, full-term first pregnancy of a 22-year-old mother. His parents were healthy and unrelated. The mother denied taking any medication during pregnancy. The infant was alert and did not appear ill.On examination several abnormalities were noted, including generalized hypertrichosis, most pronounced over the mid-back (Fig. 1), a dysmorphic facies with bilateral ectropion, hypertelorism, macrostomia, abnormally shaped ears, bulbous nose, and sparse eyebrows and eyelashes (Fig. 2). He also had hypoplasia of the nipples, transposition of the scrotum (shawl scrotum) (Fig. 3), club feet, a short neck, and laxity of the skin.A skin biopsy specimen from the right thigh showed an atrophic, slightly orthohyperkeratotic epidermis, and a thin reticular layer of dermis. Staining for elastic fibers showed a diminution in number and fragmentation (Fig. 4). The karyotype was normal. Radiographic examination of the axial skeleton, skull sonar, and abdom-inal echography were normal. Laboratory tests including full blood count, serum urea and electrolytes, serum proteins, liver enzymes, and glucose had normal results.

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

“…Aside hypertrichosis, patient with Barber-Say syndrome present atrophic lax skin, macrostomia, broad and coarse eyebrows, an hairy bulbous nasal tip with hypoplastic flaring nostrils, telecanthus and hypoplastic nipples. Mutations in KMT2A gene have been found to be the cause of the disorder [ 38 – 40 ].…”