Literature DB >> 6544388

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

R Pallotta, B Dallapiccola.   

Abstract

A syndrome with true anophthalmia, facial anomalies, hand and foot defects and mental retardation, has been observed in three patients. This syndrome is different from the Lenz syndrome, which includes microphthalmia or anophthalmia with narrow shoulders, double thumbs, skeletal abnormalities such as clavicle thinning, dental, cardiovascular and urogenital malformations without mental retardation.

Entities:  

Mesh:

Year:  1984        PMID: 6544388     DOI: 10.3109/13816818409009889

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  4 in total

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

Authors:  K Izumiya; T Nakada
Journal:  Int Urol Nephrol       Date:  1996       Impact factor: 2.370

2.  BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Authors:  Emma Hilton; Jennifer Johnston; Sandra Whalen; Nobuhiko Okamoto; Yoshikazu Hatsukawa; Juntaro Nishio; Hiroshi Kohara; Yoshiko Hirano; Seiji Mizuno; Chiharu Torii; Kenjiro Kosaki; Sylvie Manouvrier; Odile Boute; Rahat Perveen; Caroline Law; Anthony Moore; David Fitzpatrick; Johannes Lemke; Florence Fellmann; François-Guillaume Debray; Florence Dastot-Le-Moal; Marion Gerard; Josiane Martin; Pierre Bitoun; Michel Goossens; Alain Verloes; Albert Schinzel; Deborah Bartholdi; Tanya Bardakjian; Beverly Hay; Kim Jenny; Kathreen Johnston; Michael Lyons; John W Belmont; Leslie G Biesecker; Irina Giurgea; Graeme Black
Journal:  Eur J Hum Genet       Date:  2009-04-15       Impact factor: 4.246

3.  Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Authors:  Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al-Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; Andre Mégarbané; C Nur Semerci; Ayesha Khan; Saemah Zafar; Raoul Hennekam; Sérgio B Sousa; Lina Ramos; Livia Garavelli; Andrea Superti Furga; Anita Wischmeijer; Ian J Jackson; Gabriele Gillessen-Kaesbach; Han G Brunner; Dagmar Wieczorek; Hans van Bokhoven; David R Fitzpatrick
Journal:  PLoS Genet       Date:  2011-07-07       Impact factor: 5.917

Review 4.  Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature.

Authors:  Matteo Monticelli; Raffaele De Marco; Diego Garbossa
Journal:  Childs Nerv Syst       Date:  2021-01-25       Impact factor: 1.475

  4 in total

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