Literature DB >> 1951596

A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome).

M A De La Paz1, R A Lewis, J R Patrinely, L Merin, F Greenberg.   

Abstract

Four siblings of nonconsanguineous parents had congenital anomalies of the anterior segment of the eyes, eyelids, and skeletal systems. Anomalies of the anterior segment included opacities of the corneal stroma, conjunctival telangiectasia, and iridocorneal adhesions. Eyelid abnormalities included blepharoptosis, blepharophimosis, and telecanthus. One sibling with extensive anterior segment anomalies developed glaucoma. All subjects had impaired vertical gaze. Oromandibular anomalies varied from cleft lip and palate to malocclusion with overbite. Additional features included subnormal intelligence, short stature, hearing loss, and clinodactyly. This spectrum of anomalies appeared to have been transmitted as an autosomal recessive syndrome.

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Year:  1991        PMID: 1951596     DOI: 10.1016/s0002-9394(14)76861-8

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  2 in total

1.  MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Authors:  Asli Sirmaci; Tom Walsh; Hatice Akay; Michail Spiliopoulos; Yıldırım Bayezit Sakalar; Aylin Hasanefendioğlu-Bayrak; Duygu Duman; Amjad Farooq; Mary-Claire King; Mustafa Tekin
Journal:  Am J Hum Genet       Date:  2010-10-28       Impact factor: 11.025

Review 2.  Michels syndrome: the first case report from India and review of literature.

Authors:  Adedayo A Adio; Ramesh Kekunnaya; Lokesh Lingappa
Journal:  Indian J Ophthalmol       Date:  2014-09       Impact factor: 1.848

  2 in total

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