Tags

Type your tag names separated by a space and hit enter

[Robinow's syndrome associated with deafness].
Arch Fr Pediatr. 1993 Dec; 50(10):897-9.AF

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.

Authors+Show Affiliations

Service de Pédiatrie, Hôpital La Rabta, Tunis, Tunisie.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

8053771

Citation

Samoud, A, et al. "[Robinow's Syndrome Associated With Deafness]." Archives Francaises De Pediatrie, vol. 50, no. 10, 1993, pp. 897-9.
Samoud A, Menif K, Boulaares M, et al. [Robinow's syndrome associated with deafness]. Arch Fr Pediatr. 1993;50(10):897-9.
Samoud, A., Menif, K., Boulaares, M., & Ben Dridi, M. F. (1993). [Robinow's syndrome associated with deafness]. Archives Francaises De Pediatrie, 50(10), 897-9.
Samoud A, et al. [Robinow's Syndrome Associated With Deafness]. Arch Fr Pediatr. 1993;50(10):897-9. PubMed PMID: 8053771.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Robinow's syndrome associated with deafness]. AU - Samoud,A, AU - Menif,K, AU - Boulaares,M, AU - Ben Dridi,M F, PY - 1993/12/1/pubmed PY - 1993/12/1/medline PY - 1993/12/1/entrez SP - 897 EP - 9 JF - Archives francaises de pediatrie JO - Arch. Fr. Pediatr. VL - 50 IS - 10 N2 - 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. SN - 0003-9764 UR - https://www.unboundmedicine.com/medline/citation/8053771/[Robinow's_syndrome_associated_with_deafness]_ L2 - http://www.diseaseinfosearch.org/result/2125 DB - PRIME DP - Unbound Medicine ER -