New autosomal dominant branchio‐oculo‐facial syndrome

Abstract

We observed an autosomal dominant disorder of abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose with broad bridge and flattened tip, lacrimal duct obstruction, malformed ears, and branchial cleft sinuses and/or linear skin lesions behind the ears in several persons in 3 families. In each of the 3 families, an affected parent had at least one affected child. Father-to-son transmission in one of these families ruled out X-linked inheritance. Other anomalies include coloboma, microphthalmia, auricular pits, lip pits, highly arched plate, dental anomalies, and subcutaneous cysts of the scalp. Premature graying of hair occurred in the affected adults. Growth retardation, developmental delay, and hand anomalies are variable components of the syndrome.

Further delineation of the branchio‐oculo‐facial syndrome

“…Although these defects were pres ent in some form in most (42/45, 93%) of typically affected probands who had either a cervical or supraauricular defect, they were absent in patient 5 of Fujimoto et al [1987], and the grandmother reported by Muller and Kobelt [1991], i.e., patient 10 in this report.…”

“…A typical, excluded Legius et al, 1990 Fielding andFryer, 1992 H in g e t al., 1992 Harrison, 1957Farm er and M axm en, 1960Schweckendieck et al, 1977Lee et al, 1982H a ll et al, 1983Tom et aL, 1985Fujimoto et al,, 1987Barr et al, 1989Givi et al, 1989Dado and Gonzalez-Crussi, 1989 L in et a l, 1991 Mazzone et al, 1992L in et al, 1992Schmerler et al, 1992Baie and S oteloA vila, 1993Baie, 1994 McCool andWeaver, 1994 New Total …”

“…New findings were the eyebrow dermoid (patient 1) and lower lid cyst (patient 14), The orbital cysts noted by Fielding and Fryer [1992] might be pathologically related to these ocular anomalies supporting the notion that these sibs do indeed have the BOF syndrome, All 43 patients had some type of cleft. Isolated cleft lip was noted in 9%, with cleft palate in 30%, and with cleft alveolus in 4% (one of whom also had cleft chin), Isolated cleft palate did not occur, In patients without a true cleft lip (56%), the upper lip was characterized as lymphangiomatous, protruding [Harrison, 1957;McCool and Weaver, 1994], having hypertrophied lat eral philtral ridges [patient 10], resembling a fused [Hall et al, 1983] or poorly repaired cleft lip [patient 8;Fujimoto et aL, 1987], or scar-like [Hing et al, 1992]. The term pseudocleft was used by many to describe this anomaly.…”

“…Absent, small, or widespread teeth were noted in 37%. Additional ectodermal abnormali ties include sparse hair (38%), prematurely (less than 30 years) grey hair (24%), and hypoplastic fingernails [patient 5 in Fujimoto et al, 1987], Some of these anom alies may be underestimated because of the young age of several patients.…”

“…Major skeletal defects have not occurred, although minor digital abnormalities such as fifth finger clinodactyly (21%), brachydactyly (11%), and a single patient with pre-axial polydactyly [Fujimoto et al, 1987] have been noted. As discussed previously [Lin et al, 1992], renal abnormalities (absence, cysts, hydronephrosis, reflux) are the most frequent (37%) non-craniofacial anomalies.…”