Abstract
A syndrome of multiple anomalies associated with growth failure and delayed development is described. The facies appear distinctive with globular head, prominence of the eyes, hypertelorism, cleft palate, micrognathia, and abnormal pinnae. Other features include vertebral and costal anomalies, cardiac defects, and a peculiar malformation of the hands. At least five other cases of this condition, all occurring in males, may be found in medical reports. The finding of incomplete expression in three maternal relatives of our patient provides evidence for a genetic cause.
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- Farnsworth P. B., Pacik P. T. Glossoptotic hypoxia and micrognathia--the Pierre Robin syndrome reviewed. Early recognition and prompt surgical treatment is important for survival. Clin Pediatr (Phila) 1971 Oct;10(10):600–606. doi: 10.1177/000992287101001029. [DOI] [PubMed] [Google Scholar]
- Freeman R. Limb deformities: possible association with drugs. Med J Aust. 1972 Mar 18;1(12):606–607. [PubMed] [Google Scholar]
- Gewitz M., Dinwiddie R., Yuille T., Hill F., Carter C. O. Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence. J Med Genet. 1978 Apr;15(2):162–164. doi: 10.1136/jmg.15.2.162. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Holthusen W. [The Pierre Robin syndrome: unusual associated developmental defects]. Ann Radiol (Paris) 1972 Mar-Apr;15(3):253–262. [PubMed] [Google Scholar]
- McKusick V. A. The William Allan Memorial Award Lecture: Genetic nosology: three approaches. Am J Hum Genet. 1978 Mar;30(2):105–122. [PMC free article] [PubMed] [Google Scholar]
- Rachelefsky GS, Flynt JW Jr,+FLYNT JW JR, Ebbin AJ, Wilson MG, Banister P, Dafoe C, Smith ES, Miller J:Possible teratogenicity of tricyclic antidepressants. Lancet. 1972 Apr 15;1(7755):838–839. [PubMed] [Google Scholar]