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Literature DB >> 4076260

Tetra-amelia with multiple malformations in six male fetuses of one kindred.

E Z Zimmer, E Taub, Y Sova, M Y Divon, M Pery, B A Peretz.

Abstract

An Arab Moslem kindred is reported in which six abnormal male fetuses were born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. The similarities and differences between the developmental and inherent characteristics found in our patients and in families with Roberts syndrome are discussed.

Entities: Disease Species

Mesh：

Year: 1985 PMID： 4076260 DOI： 10.1007/BF00441792

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

8 in total

1. TOTAL AMELIA.

Authors: C S DRESHER; J A MACDONELL
Journal: J Bone Joint Surg Am Date: 1965-04 Impact factor: 5.284

2. Three siblings with Robert's syndrome.

Authors: L Zergollern; F Hitrec
Journal: Clin Genet Date: 1976-04 Impact factor: 4.438

3. The SC phocomelia and the Roberts syndrome: nosologic aspects.

Authors: J Herrmann; J M Opitz
Journal: Eur J Pediatr Date: 1977-06-01 Impact factor: 3.183

4. Four siblings with Robert's syndrome.

Authors: L Zergollern; V Hitrec
Journal: Clin Genet Date: 1982-01 Impact factor: 4.438

5. Roberts syndrome: clinical and cytogenetic aspects.

Authors: N P Mann; J Fitzsimmons; E Fitzsimmons; P Cooke
Journal: J Med Genet Date: 1982-04 Impact factor: 6.318

6. The Roberts syndrome.

Authors: M V Freeman; D W Williams; R N Schimke; S A Temtamy; E Vachier; J German
Journal: Clin Genet Date: 1974-01 Impact factor: 4.438

7. The tetraphocomelia -- cleft palate syndrome: description of a new case.

Authors: F R Grosse; C Pandel; H R Wiedemann
Journal: Humangenetik Date: 1975-08-25

8. Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing.

Authors: J German
Journal: Clin Genet Date: 1979-12 Impact factor: 4.438

8 in total

7 in total

1. Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation.

Authors: S Ohdo; H Madokoro; T Sonoda; M Takei; H Yasuda; N Mori
Journal: J Med Genet Date: 1987-10 Impact factor: 6.318

Tetra-amelia with multiple malformations in six male fetuses of one kindred.

1. TOTAL AMELIA.

2. Three siblings with Robert's syndrome.

3. The SC phocomelia and the Roberts syndrome: nosologic aspects.

4. Four siblings with Robert's syndrome.

5. Roberts syndrome: clinical and cytogenetic aspects.

6. The Roberts syndrome.

7. The tetraphocomelia -- cleft palate syndrome: description of a new case.

8. Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing.

1. Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation.

Review 2. A review of supernumerary and absent limbs and digits of the upper limb.

Review 3. Malformation syndromes: a review of mouse/human homology.

4. Fetal amelia: a case report.

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

6. FFU complex: an analysis of 491 cases.

7. Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies.