Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family

Lihadh Al-Gazali; Raveendra Nath; Durdana Iram; Hadi Al Malik

doi:10.1097/MCD.0b013e3280147217

Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family

Lihadh Al-Gazali
, Raveendra Nath
, Durdana Iram
, Hadi Al Malik

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

8 Citations (Scopus)

Abstract

We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in addition had severe hypotonia and developmental delay. Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome.

Original language	English
Pages (from-to)	105-107
Number of pages	3
Journal	Clinical Dysmorphology
Volume	16
Issue number	2
DOIs	https://doi.org/10.1097/MCD.0b013e3280147217
Publication status	Published - Apr 2007

Keywords

Arab
Athelia/hypothelia
Autosomal recessive
Scalp defect

ASJC Scopus subject areas

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

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10.1097/MCD.0b013e3280147217

Cite this

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abstract = "We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in addition had severe hypotonia and developmental delay. Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome.",

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AU - Nath, Raveendra

AU - Iram, Durdana

AU - Al Malik, Hadi

PY - 2007/4

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N2 - We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in addition had severe hypotonia and developmental delay. Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome.

AB - We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in addition had severe hypotonia and developmental delay. Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome.

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KW - Athelia/hypothelia

KW - Autosomal recessive

KW - Scalp defect

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Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family

Abstract

Keywords

ASJC Scopus subject areas

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