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Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: Branchio-oto-costal syndrome?

✍ Scribed by Clementi, Maurizio; Mammi, Isabella; Tenconi, Romano

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 96 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970110)68:1<91::aid-ajmg18>3.0.co;2-j

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✦ Synopsis

We report on a family in which 3 sibs were affected with conductive deafness, bilateral preauricular and commissural lip pits, monolateral branchial fistula, and rib anomalies. On the basis of parental consanguinity, lack of clinical variability and affected subjects of both sexes, this condition seems to be inherited as an autosomal recessive trait. We suggest that these findings comprise a new autosomal recessive entity of branchial, auricular and costal anomalies, for which we suggest the acronym BOC (branchiooto-costal) syndrome.

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✍ Stratakis, Constantine A.; Lin, Jing Ping; Rennert, Owen M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

It has been suggested that branchio-oculo-facial (BOF) syndrome, deafness with ear pits, and associated conditions [MIM nos. 125100, 120502], and branchio-oto-renal (BOR) [MIM no. 113650] or Melnick-Fraser syndrome represent phenotypic variants of the BOR syndrome, which is inherited in an autosomal