Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: Confirmation of an autosomal recessive syndrome

L. I. Al-Gazali; M. Bakir; M. R. Sadaghatian; R. Nath; D. Haas

Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: Confirmation of an autosomal recessive syndrome

L. I. Al-Gazali, M. Bakir, M. R. Sadaghatian, R. Nath, D. Haas

Research output: Contribution to journal › Article › peer-review

Abstract

We report two sibs from a complexly consanguineous family with joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. The features of these sibs are similar to the features of the sibs reported by Al-Gazali et al. (Clin Dysmorphol 3: 238-244, 1994). This report confirms the identity of this new autosomal recessive syndrome.

Original language	English
Pages (from-to)	87-92
Number of pages	6
Journal	Clinical Dysmorphology
Volume	8
Issue number	2
Publication status	Published - 1999

Keywords

Anterior segment anomalies of the eye
Arthrogryposis multiplex
Autosomal recessive
Skeletal anomalies

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Anatomy
Pathology and Forensic Medicine
Genetics(clinical)

Cite this

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abstract = "We report two sibs from a complexly consanguineous family with joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. The features of these sibs are similar to the features of the sibs reported by Al-Gazali et al. (Clin Dysmorphol 3: 238-244, 1994). This report confirms the identity of this new autosomal recessive syndrome.",

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AU - Al-Gazali, L. I.

AU - Bakir, M.

AU - Sadaghatian, M. R.

AU - Nath, R.

AU - Haas, D.

PY - 1999

Y1 - 1999

N2 - We report two sibs from a complexly consanguineous family with joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. The features of these sibs are similar to the features of the sibs reported by Al-Gazali et al. (Clin Dysmorphol 3: 238-244, 1994). This report confirms the identity of this new autosomal recessive syndrome.

AB - We report two sibs from a complexly consanguineous family with joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. The features of these sibs are similar to the features of the sibs reported by Al-Gazali et al. (Clin Dysmorphol 3: 238-244, 1994). This report confirms the identity of this new autosomal recessive syndrome.

KW - Anterior segment anomalies of the eye

KW - Arthrogryposis multiplex

KW - Autosomal recessive

KW - Skeletal anomalies

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Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: Confirmation of an autosomal recessive syndrome

Abstract

Keywords

ASJC Scopus subject areas

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