Literature DB >> 8738628

Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy.

K Izumiya1, T Nakada.   

Abstract

A boy was found to have bilateral anophthalmia at birth. General health examination revealed cryptorchidism and micropenis. Physical and mental retardation in addition to epilepsy were observed. Karyotype showed 47, XY. No report has ever described such a case of dysmorphic syndrome.

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Mesh：

Year:  1996        PMID： 8738628     DOI： 10.1007/bf02550146

Source DB:  PubMed          Journal:  Int Urol Nephrol        ISSN： 0301-1623            Impact factor:   2.370


  14 in total

1.  Anophthalmia in Delleman syndrome.

Authors:  M C Brodsky; R A Harper; L D Keppen; C M Glasier
Journal:  Am J Med Genet       Date:  1990-09

2.  Clinical anophthalmos in a family.

Authors:  A Sensi; C Incorvaia; A Sebastiani; E Calzolari
Journal:  Clin Genet       Date:  1987-09       Impact factor: 4.438

3.  Cryptophthalmos and anophthalmos.

Authors:  K Kalra; A Kalra; D J Pandey; R Gupta; A Misra; R S Dayal
Journal:  Indian Pediatr       Date:  1985-08       Impact factor: 1.411

4.  Primary anophthalmos histological and genetic features.

Authors:  W G Pearce; S Nigam; J Rootman
Journal:  Can J Ophthalmol       Date:  1974-01       Impact factor: 1.882

5.  Anophthalmia in the focal dermal hypoplasia syndrome.

Authors:  D M Marcus; J W Shore; D M Albert
Journal:  Arch Ophthalmol       Date:  1990-01

6.  Waardenburg's recessive anophthalmia syndrome.

Authors:  E I Traboulsi; A M Nasr; S D Fahd; N M Jabbour; V M Der Kaloustian
Journal:  Ophthalmic Paediatr Genet       Date:  1984-04

7.  X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.

Authors:  M F Goldberg; V A McKusick
Journal:  Am J Ophthalmol       Date:  1971-05       Impact factor: 5.258

8.  Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.

Authors:  M Ramsing; H Rehder; W Holzgreve; P Meinecke; W Lenz
Journal:  Clin Genet       Date:  1990-02       Impact factor: 4.438

9.  A syndrome with true anophthalmia, hand-foot defects and mental retardation.

Authors:  R Pallotta; B Dallapiccola
Journal:  Ophthalmic Paediatr Genet       Date:  1984-04

10.  Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(p15.2;q11.2).

Authors:  A Schinzel; V D'Apuzzo
Journal:  Ophthalmic Paediatr Genet       Date:  1990-06
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