Newly recognized autosomal recessive faciothoracoskeletal syndrome

Newly recognized autosomal recessive faciothoracoskeletal syndrome

We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long nec, pectus excavatum, brachy‐camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. © 19...

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Veröffentlicht in:American journal of medical genetics 1994-01, Vol.49 (2), p.224-228
Hauptverfasser: Richieri-Costa, A., Guion-Almeida, M. L., Lauris, J. R. P., Ferreira, D. M.
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - pathology
autosomal recessive inheritance
Biological and medical sciences
Blepharophimosis
camptodactyly
case reports
Child
Complex syndromes
Consanguinity
Face - abnormalities
faciothoracoskeletal syndrome
family studies
Foot Deformities, Congenital
Funnel Chest
Genes, Recessive
Hand Deformities, Congenital
Humans
inheritance
Lumbar Vertebrae - abnormalities
Male
man
Medical genetics
Medical sciences
pectus excavatum
small ears
Syndrome
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Zusammenfassung:We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long nec, pectus excavatum, brachy‐camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. © 1994 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320490213