Literature DB >> 10213037

Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.

P N Kantaputra1, R J Gorlin, N Ukarapol, K Unachak, J Sudasna.   

Abstract

The cases of two patients with Robinow fetal face syndrome, an 11-year-old Thai boy and a newborn Caucasian girl, are described. The Thai boy had the characteristics typical of the dominant type of the syndrome with a few newly recognized signs, including communicating hydrocephalus, underdeveloped sinuses, short roots of the teeth, narrow and thick-floored pulp chambers, hypoplastic nipples, absent middle phalanges of the second to fifth toes, cone-shaped epiphyses of the second and fourth fingers and fifth toes, single creases of the fourth and fifth fingers, clinodactyly of the third fingers, dysmorphic umbilicus, and shawl scrotum. The girl had anomalies typical of the recessive type of the syndrome. She also had capillary hemangioma at the tip of her nose and hypoplastic fourth metatarsal bones, which are the newly recognized features of the recessive type. Infrequently reported clinical manifestations of the syndrome are discussed.

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Year:  1999        PMID: 10213037     DOI: 10.1002/(sici)1096-8628(19990507)84:1<1::aid-ajmg1>3.0.co;2-c

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Orofacial Manifestations of Autosomal Recessive Robinow's Syndrome: A Rare Case Report.

Authors:  Santosh Mali; Neha Bansal; Amol Dhokar; Monica Yadav
Journal:  J Clin Diagn Res       Date:  2016-03-01

2.  Dental management and orofacial manifestations of a patient with Robinow Syndrome.

Authors:  Adil Basman; Gulsun Akay; Ilkay Peker; Kahraman Gungor; Zuhre Akarslan; Suat Ozcan; Cemile Ozlem Ucok
Journal:  J Istanb Univ Fac Dent       Date:  2017-04-03

3.  Robinow Syndrome and Fusion of Primary Teeth.

Authors:  Priti Sushil Jain; Tejashri Shreyas Gupte; Abdulkadeer M Jetpurwala; Shely Pratik Dedhia
Journal:  Contemp Clin Dent       Date:  2017 Jul-Sep
  3 in total

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