Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

L. I. Al-Gazali; D. Bakalinova

doi:10.1097/00019605-199807000-00004

Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

L. I. Al-Gazali, D. Bakalinova

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

13 Citations (Scopus)

Abstract

We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these children represents a previously undescribed syndrome.

Original language	English
Pages (from-to)	177-184
Number of pages	8
Journal	Clinical Dysmorphology
Volume	7
Issue number	3
DOIs	https://doi.org/10.1097/00019605-199807000-00004
Publication status	Published - 1998

Keywords

Autosomal recessive
Epiphyseal dysplasia
Frontal lobe atrophy
Lynphoedema
Macrocephaly

ASJC Scopus subject areas

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

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10.1097/00019605-199807000-00004

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abstract = "We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these children represents a previously undescribed syndrome.",

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AU - Al-Gazali, L. I.

AU - Bakalinova, D.

PY - 1998

Y1 - 1998

N2 - We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these children represents a previously undescribed syndrome.

AB - We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these children represents a previously undescribed syndrome.

KW - Autosomal recessive

KW - Epiphyseal dysplasia

KW - Frontal lobe atrophy

KW - Lynphoedema

KW - Macrocephaly

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Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Abstract

Keywords

ASJC Scopus subject areas

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