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Characteristic craniofacial appearance and brachytelephalangy in a mother and son with Kallman syndrome in the son

✍ Scribed by Hunter, Alasdair G. W. ;Feldman, William ;Miller, Jonathan ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
470 KB
Volume
24
Category
Article
ISSN
0148-7299

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✦ Synopsis

We report on a mother and son with a similar facies characterized by a square forehead, small nose, telecanthus, and thin upper lip. They both had a similar metacarpal-phalangeal profile characterized by marked brachytelephalangy . They were both short in comparison to other family members, and the son had hypogonadotropic-hypogonadism and anosmia. We favor the hypothesis of a single autosomal dominant gene with variable expression of the hypogonadism and anosmia, although there are alternative explanations for the combination.

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