Literature DB >> 22987502

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Hitesh Shah1, Susanne Bens, Almuth Caliebe, John M Graham, Katta Mohan Girisha.   

Abstract

We report on a 14-year-old girl with growth deficiency, microcephaly, intellectual disability, distinctive dysmorphic features (bulbous nose with wide nasal base, hypotelorism, deeply set eyes, protruding cupped ears, and thick lower lip), cataract, pigmentary retinopathy, hypoplastic thorax, kyphoscoliosis, and unusual skeletal changes but without chromosomal imbalances detected by array-CGH who probably represents a novel phenotype.
Copyright © 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID： 22987502      PMCID： PMC3477260          DOI： 10.1002/ajmg.a.35618

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  8 in total

1.  New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.

Authors:  F Gurrieri; V Sammito; A Bellussi; G Neri
Journal:  Am J Med Genet       Date:  1992-10-01

2.  Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII)

Authors:  F Gurrieri; V Sammito; B Ricci; M Iossa; A Bellussi; G Neri
Journal:  Am J Med Genet       Date:  1992-04-01

3.  Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

Authors:  David L Skidmore; David Chitayat; Tim Morgan; Alek Hinek; Bjoern Fischer; Aikaterini Dimopoulou; Gino Somers; William Halliday; Susan Blaser; Yenge Diambomba; Edmond G Lemire; Uwe Kornak; Stephen P Robertson
Journal:  Am J Med Genet A       Date:  2011-07-07       Impact factor: 2.802

4.  Osteomesopyknosis. Case report.

Authors:  R Proschek; H Labelle; C Bard; D Marton
Journal:  J Bone Joint Surg Am       Date:  1985-04       Impact factor: 5.284

5.  Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.

Authors:  Stephen P Robertson
Journal:  Eur J Hum Genet       Date:  2006-08-23       Impact factor: 4.246

Review 6.  Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

Authors:  Judith G Hall; Christina Flora; Charles I Scott; Richard M Pauli; Kimi I Tanaka
Journal:  Am J Med Genet A       Date:  2004-09-15       Impact factor: 2.802

7.  Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

Authors:  Ghada M H Abdel-Salam; Mohamed S Abdel-Hamid; Mahmoud Issa; Ahmed Magdy; Ahmed El-Kotoury; Khalda Amr
Journal:  Am J Med Genet A       Date:  2012-05-11       Impact factor: 2.802

8.  Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

Authors:  Hans Christian Hennies; Uwe Kornak; Haikuo Zhang; Johannes Egerer; Xin Zhang; Wenke Seifert; Jirko Kühnisch; Birgit Budde; Marc Nätebus; Francesco Brancati; William R Wilcox; Dietmar Müller; Paige B Kaplan; Anna Rajab; Giuseppe Zampino; Valentina Fodale; Bruno Dallapiccola; William Newman; Kay Metcalfe; Jill Clayton-Smith; May Tassabehji; Beat Steinmann; Francis A Barr; Peter Nürnberg; Peter Wieacker; Stefan Mundlos
Journal:  Nat Genet       Date:  2008-11-09       Impact factor: 38.330
  8 in total

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