Literature DB >> 672092

[Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)].

K W Ruprecht, F Majewski.   

Abstract

A report is given on two sisters with arhinia, hypertelorism, Peters' anomaly and deformities of the maxilla. The lacrimal sacs in both patients were extirpated because of recurrent dacryoadenitis due to bilateral aplasia of the nasolacrimal ducts. One eye showing Peters' anomaly with microphthalmus was enucleated in the elder patient 12 years ago. Differential diagnosis includes frontonasal dysplasia and the different types of holoprosencephaly-syndromes. Probably this new malformation syndrome is a recessive inherited.

Entities:  

Mesh:

Year:  1978        PMID: 672092

Source DB:  PubMed          Journal:  Klin Monbl Augenheilkd        ISSN: 0023-2165            Impact factor:   0.700


  4 in total

Review 1.  [The rare malformation of nasal aplasia].

Authors:  C-H Cho; M Shakibaei; H-J Merker; M Klein
Journal:  Mund Kiefer Gesichtschir       Date:  2006-03

2.  Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs.

Authors:  I D Young; W G Macrae; H E Hughes; J S Crawford
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

3.  Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.

Authors:  Angela Delaney; Rita Volochayev; Brooke Meader; Janice Lee; Konstantinia Almpani; Germaine Y Noukelak; Jennifer Henkind; Laura Chalmers; Jennifer R Law; Kathleen A Williamson; Christina M Jacobsen; Tatiana Pineda Buitrago; Orlando Perez; Chie-Hee Cho; Angela Kaindl; Anita Rauch; Katharina Steindl; Jose Elias Garcia; Bianca E Russell; Rameshwar Prasad; Uttam K Mondal; Hallvard M Reigstad; Scott Clements; Susan Kim; Kaoru Inoue; Gazal Arora; Kathryn B Salnikov; Nicole P DiOrio; Rolando Prada; Yline Capri; Kosuke Morioka; Michiyo Mizota; Roseli M Zechi-Ceide; Nancy M Kokitsu-Nakata; Cristiano Tonello; Siulan Vendramini-Pittoli; Gisele da Silva Dalben; Ravikumar Balasubramanian; Andrew A Dwyer; Stephanie B Seminara; William F Crowley; Lacey Plummer; Janet E Hall; John M Graham; Angela E Lin; Natalie D Shaw
Journal:  J Clin Endocrinol Metab       Date:  2020-05-01       Impact factor: 5.958

Review 4.  Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors:  Anne Slavotinek
Journal:  Hum Genet       Date:  2018-10-30       Impact factor: 4.132

  4 in total

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