Literature DB >> 20625748

Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases.

M Ragavan1, Sarweswar Reddy, Chandramohan Kumar.   

Abstract

Although limb anomalies are a common clinical problem, they are rarely studied. The spectrum of limb anomalies ranges from very mild disorders such as syndactyly to very severe forms such as absent limb (amelia). Tetra-amelia is a rare anomaly with complete or partial deficiency of all four limbs. It may be isolated or associated with other anomalies. Roberts-SC phocomelia syndrome comprises four limb deficiencies, lung hypoplasia, facial clefts and other anomalies. We describe two cases that presented to us.

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Year:  2010        PMID: 20625748     DOI: 10.1007/s00383-010-2656-8

Source DB:  PubMed          Journal:  Pediatr Surg Int        ISSN: 0179-0358            Impact factor:   1.827


  18 in total

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Authors:  J A Evans; M Vitez; A Czeizel
Journal:  Am J Med Genet       Date:  1994-01-01

2.  Tetra-amelia and splenogonadal fusion in Roberts syndrome.

Authors:  T J de Ravel; M D Seftel; C A Wright
Journal:  Am J Med Genet       Date:  1997-01-20

3.  Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling.

Authors:  Françoise Gofflot; Carine Hars; Françoise Illien; Françoise Chevy; Claude Wolf; Jacques J Picard; Charles Roux
Journal:  Hum Mol Genet       Date:  2003-05-15       Impact factor: 6.150

4.  Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome?

Authors:  S Başaran; A Yüksel; H Ermiş; F Kuseyri; M Ağan; M Yüksel-Apak
Journal:  Am J Med Genet       Date:  1994-05-15

5.  Production of congenital limb defects with retinoic acid: phenomenological evidence of progressive differentiation during limb morphogenesis.

Authors:  T E Kwasigroch; D M Kochhar
Journal:  Anat Embryol (Berl)       Date:  1980

6.  Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.

Authors:  Stephan Niemann; Chengfeng Zhao; Filon Pascu; Ulrich Stahl; Ute Aulepp; Lee Niswander; James L Weber; Ulrich Müller
Journal:  Am J Hum Genet       Date:  2004-02-05       Impact factor: 11.025

7.  Absence of limbs and gross body wall defects: an epidemiological study of related rare malformation conditions.

Authors:  P Mastroiacovo; B Källén; L B Knudsen; P A Lancaster; E E Castilla; O Mutchinick; E Robert
Journal:  Teratology       Date:  1992-11

8.  Hand-reduction malformations: genetic and syndromic analysis.

Authors:  R T Pilarski; R M Pauli; W D Engber
Journal:  J Pediatr Orthop       Date:  1985 May-Jun       Impact factor: 2.324

9.  Amelia: incidence and associated defects in a large population.

Authors:  U G Froster-Iskenius; P A Baird
Journal:  Teratology       Date:  1990-01

10.  Maternal factors, medications, and drug exposure in congenital limb reduction defects.

Authors:  U G Froster; P A Baird
Journal:  Environ Health Perspect       Date:  1993-10       Impact factor: 9.031

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  1 in total

1.  Long-term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature.

Authors:  Jing Zhou; Xiaonan Yang; Xiaolei Jin; Zhenhua Jia; Haibin Lu; Zuoliang Qi
Journal:  Exp Ther Med       Date:  2017-12-05       Impact factor: 2.447

  1 in total

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