Abstract
A male infant is described with severe micrognathia and bilateral duplication of the proximal phalanges of the index fingers, an association which is characteristic of the Catel-Manzke syndrome. In addition, he had dislocatable knees, which have not been described in this disorder before.
Full text
PDF![271](https://cdn.ncbi.nlm.nih.gov/pmc/blobs/795d/1049644/e00d57ee6d8b/jmedgene00089-0079.png)
![272](https://cdn.ncbi.nlm.nih.gov/pmc/blobs/795d/1049644/d190106c157f/jmedgene00089-0080.png)
![273](https://cdn.ncbi.nlm.nih.gov/pmc/blobs/795d/1049644/5d2a480c2f33/jmedgene00089-0081.png)
![274](https://cdn.ncbi.nlm.nih.gov/pmc/blobs/795d/1049644/23cb0a8a15cc/jmedgene00089-0082.png)
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- 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]
- 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]
- Lipson A., Beuhler B., Bartley J., Walsh D., Yu J., O'Halloran M., Webster W. Maternal hyperphenylalaninemia fetal effects. J Pediatr. 1984 Feb;104(2):216–220. doi: 10.1016/s0022-3476(84)80995-6. [DOI] [PubMed] [Google Scholar]
- Manzke H. Symmetrische Hyperphalangie des zweiten Fingers durch ein akzessorisches Metacarpale. Fortschr Geb Rontgenstr Nuklearmed. 1966 Sep;105(3):425–427. [PubMed] [Google Scholar]
- Silengo M. C., Franceschini P., Cerutti A., Fabris C. Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: a possible new palato-digital syndrome. Pediatr Radiol. 1977 Oct 28;6(3):178–180. doi: 10.1007/BF00972113. [DOI] [PubMed] [Google Scholar]
- Stevenson R. E., Huntley C. C. Congenital malformations in offspring of phenylketonuric mothers. Pediatrics. 1967 Jul;40(1):33–45. [PubMed] [Google Scholar]
- Stevenson R. E., Taylor H. A., Jr, Burton O. M., Hearn H. B., 3rd A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton. J Med Genet. 1980 Jun;17(3):238–242. doi: 10.1136/jmg.17.3.238. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sundaram V., Taysi K., Hartmann A. F., Jr, Shackelford G. D., Keating J. P. Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature. Clin Genet. 1982 Jun;21(6):407–410. doi: 10.1111/j.1399-0004.1982.tb01395.x. [DOI] [PubMed] [Google Scholar]