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PubMed · 8053771

[Robinow's syndrome associated with deafness].

A Samoud·K Menif·M Boulaares·M F Ben Dridi
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Abstract

BACKGROUND: Robinow mesomelic dysplasia is an autosomal dominant or recessive condition that results is a flat facial profile, mesomelic shortening and frequent genital hypoplasia. This report describes a case with bilateral deafness. CASE REPORT: A boy was born at term to consanguineous parents who have no morphological abnormalities. The child's older brother and sister are normal. The patient was admitted at the age of 5 months because of abnormal features: enlarged skull with prominent forehead, flat facial profile, hypertelorism, small chin, shortening in the mesomelic segments of the limbs and genital hypoplasia without cryptorchidism. X-rays confirmed the mesomelic shortening and showed radial head dislocation and vertebral abnormalities. These abnormalities were more evident at the age of 2 1/2 years, when a bilateral sensorineural hearing loss was detected. CONCLUSION: This case of Robinow has all the characteristic findings plus deafness. The parental consanguinity suggests that its inheritance is autosomal recessive.

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Abnormalities, MultipleDeafnessDwarfismFacial BonesGenitalia, MaleHumansInfantMaleSkullSpineSyndromeCase ReportsEnglish AbstractJournal Article

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A Samoud, K Menif, M Boulaares, M F Ben Dridi. 1993. [Robinow's syndrome associated with deafness].. https://pubmed.ncbi.nlm.nih.gov/8053771/

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