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Literature DB >> 7227393

Heptacarpo-octatarso-dactyly combined with multiple malformation.

U Töllner, J Horst, E Manzke, M Schmid, H Nestler-Wocher, C Weckler.

Abstract

A case of heptacarpo-octatarso-dactyly combined with cheilo-gnatho-palato-schisis, hypertelorism, macroglossia, complex malformations of heart and great vessels, horse-shoe-kidney, micro-penis, and penis palmatus is described. To our knowledge, this syndrome has not yet been described in the literature. Some of the features of the case reported overlap with syndromes such as Grauhan syndrome and Meckel syndrome.

Entities: Disease Species

Mesh：

Year: 1981 PMID： 7227393 DOI： 10.1007/bf00441926

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

10 in total

1. Crossed polydactyly. Case report and review of the literature.

Authors: P A Nathan; R C Keniston
Journal: J Bone Joint Surg Am Date: 1975-09 Impact factor: 5.284

2. DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

Authors: V A MCKUSICK; J A EGELAND; R ELDRIDGE; D E KRUSEN
Journal: Bull Johns Hopkins Hosp Date: 1964-10

3. Laurence-Moon-Bardet-Biedl syndrome: review of the literature and a report of five cases including a family group with three affected males.

Authors: J BLUMEL; W T KNIKER
Journal: Tex Rep Biol Med Date: 1959

8. [Postaxial polydactyly: a symptom of partial trisomy of the long arm of chromosome 13. Two new observations with 46, XX, t (22;13) (q13;q31) and 46, XY, Dup (13) (pter-q34::q22-qter) (author's transl)].

Authors: E Kessel; R A Pfeiffer; C Baisch
Journal: Klin Padiatr Date: 1980-01 Impact factor: 1.349

9. Carpenter's syndrome: acrocephalopolysyndactyly. An autosomal recessive syndrome.

Authors: S A Temtamy
Journal: J Pediatr Date: 1966-07 Impact factor: 4.406

10. Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome.

Authors: A S Hanissian; W W Riggs; D A Thomas
Journal: J Pediatr Date: 1967-12 Impact factor: 4.406

10 in total

1 in total

1. Prenatal diagnosis of a probable hereditary syndrome with holoprosencephaly, hydrocephaly, octodactyly, and cardiac malformations.

Authors: W Grote; H Rehder; D Weisner; H R Wiedemann
Journal: Eur J Pediatr Date: 1984-12 Impact factor: 3.183

1 in total

Heptacarpo-octatarso-dactyly combined with multiple malformation.

1. Crossed polydactyly. Case report and review of the literature.

2. DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

3. Laurence-Moon-Bardet-Biedl syndrome: review of the literature and a report of five cases including a family group with three affected males.

4. [A contribution to the clinical picture of acrocephalosyndactylia (Apert's syndrome)].

5. Multiple congenital anomaly caused by an extra autosome.

6. The genetics of hand malformations.

7. [An uncommon bone syndrome, associating heptadactylia with tibial aplasia].

8. [Postaxial polydactyly: a symptom of partial trisomy of the long arm of chromosome 13. Two new observations with 46, XX, t (22;13) (q13;q31) and 46, XY, Dup (13) (pter-q34::q22-qter) (author's transl)].

9. Carpenter's syndrome: acrocephalopolysyndactyly. An autosomal recessive syndrome.

10. Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome.

1. Prenatal diagnosis of a probable hereditary syndrome with holoprosencephaly, hydrocephaly, octodactyly, and cardiac malformations.