Literature DB >> 3398008

New autosomal recessive faciodigitogenital syndrome.

A S Teebi1, K K Naguib, S Al-Awadi, Q A Al-Saleh.   

Abstract

Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed.

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Year:  1988        PMID: 3398008      PMCID: PMC1050509          DOI: 10.1136/jmg.25.6.400

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  24 in total

1.  [Aarskog syndrome (author's transl)].

Authors:  J Kunze; J Spranger
Journal:  Klin Padiatr       Date:  1973-11       Impact factor: 1.349

2.  The Aarskog syndrome.

Authors:  C T Furukawa; B D Hall; D W Smith
Journal:  J Pediatr       Date:  1972-12       Impact factor: 4.406

3.  A familial syndrome of short stature associated with facial dysplasia and genital anomalies.

Authors:  D Aarskog
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

4.  Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome.

Authors:  C I Scott
Journal:  Birth Defects Orig Artic Ser       Date:  1971-05

5.  The facial-digital-genital (Aarskog) syndrome.

Authors:  G I Sugarman; D L Rimoin; R S Lachman
Journal:  Am J Dis Child       Date:  1973-08

6.  The Aarskog syndrome.

Authors:  J P Fryns; J Macken; L Vinken; L Igodt-Ameye; H van den Berghe
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132

7.  Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome.

Authors:  T H Kirkham; J Milot; P Berman
Journal:  Am J Ophthalmol       Date:  1975-03       Impact factor: 5.258

8.  Hereditary contractures of the fingers (camptodactyly).

Authors:  J P Welch; S A Temtamy
Journal:  J Med Genet       Date:  1966-06       Impact factor: 6.318

9.  The inheritance of the Aarskog facial-digital-genital syndrome.

Authors:  P Berman; C Desjardins; F C Fraser
Journal:  J Pediatr       Date:  1975-06       Impact factor: 4.406

10.  [Aarskog's syndrome. Description of a case and endocrinological study].

Authors:  G Saggese; S Bertelloni; G I Baroncelli; L Calisti
Journal:  Pediatr Med Chir       Date:  1983 Nov-Dec
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  6 in total

1.  Kuwait type faciodigitogenital syndrome.

Authors:  A S Teebi; S A al Awadi
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

2.  Identifying Aarskog Syndrome.

Authors:  Anis Ahmed; Abdullah Mufeed; Ashir Kolikkal Ramachamparambathu; Umer Hasoon
Journal:  J Clin Diagn Res       Date:  2016-12-01

Review 3.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

4.  Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.

Authors:  R C Shepherd; D R Goudie; J L Tolmie
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

5.  Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome.

Authors:  Ulaş Cıkla; Philip F Giampietro; Alireza Sadighi; Mustafa K Başkaya
Journal:  NMC Case Rep J       Date:  2015-02-20

6.  A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report.

Authors:  Hongshuai Jia; Tiantian Ma; Ziqin Liu; Yuru Ouyang; Chunsheng Hao
Journal:  Transl Pediatr       Date:  2021-05
  6 in total

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