The present report concerns a two-generation family of nine individuals in which the father and three of the six living children all had: (1) a mixed hearing loss with a Mondini type cochlear malformation and stapes fixation; (2) cup-shaped, anteverted pinnae with bilateral prehelical pits; (3) bilateral branchial cleft fistulas; and (4) bilateral renal dysplasia and anomalies of the collecting system. The father and one affected son also had aplasia of the lacrimal ducts. A fourth child who died at 5 months of age was reported to have branchial cleft fistulas and bilateral polycystic kidneys at autopsy. In addition, the concept of noso-embryologic communities is presented. Such groups are composed of syndromes whose total phenotypic spectra not only overlap but also share common elements in embryogenesis. This concept is illustrated with a group of branchial arch syndromes that are related in this way.
Sixteen individuals with hypohidrotic ectodermal dysplasia (HED) were compared to normal standards as well as to 16 unaffected family members by using a series of 20 anthropometric measurements of the head and face. Individuals with HED were generally smaller than normal controls or their unaffected relatives. However, this size reduction was not uniform. Instead, it was most evident in the anterior-posterior dimensions of the lower two-thirds of the face, in facial height, and in the size of the ears, nose, and mouth. A stepwise discriminant function analysis indicated that a function constructed from four variables (depth of the lower face, width of the nose, mandibular arc, and total facial height) could accurately classify 96.7% of the 32 individuals in the combined sample of affected and unaffected individuals. These findings demonstrated that the face of individuals with HED is unique and can be useful in its diagnosis. Additional studies are needed to determine if similar-though-less-pronounced facial abnormalities can be used to detect minimally affected gene carriers of this presumably X-linked condition.
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