Abstract
A female Chinese stillborn with clinical characteristics of femoral facial syndrome
is described. Apart from the typical facial features of the syndrome like short nose
with broad tip, up-slanting palpebral fissures, cleft lip and cleft palate, micrognathia,
and bilateral hypoplastic and malformed pinnae, the case had two rare findings, complete
absence of both femora, and preaxial polydactyly in the feet. The combination of these
two findings in a single patient had not been reported before. This report also reiterates
the rare association between preaxial polydactyly and the femoral facial syndrome.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Clinical ImagingAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Femoral hypoplasia—unusual facies syndrome.J Pediatr. 1975; 86: 107-111
- Femoral hypoplasia—unusual facies syndrome in infants of diabetic mothers.J Pediatr. 1983; 102: 866-872
- Femoral hypoplasia—unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.J Med Genet. 1996; 33: 165-167
- Femoral-facial syndrome with malformations in the central nervous system.Clin Imaging. 2003; 27: 23-26
- Femoral hypoplasia—unusual facies syndrome.J Pediatr. 1975; 87: 668-669
- Femoral hypoplasia—unusual facies syndrome.Am J Med Genet. 1980; 5: 255-258
- Bilateral femoral agenesis in femoral facial syndrome in a 19-week-old fetus.Am J Med Genet. 1997; 72: 315-318
- Femoral-facial syndrome with hemifacial microsomia and hypoglossia.Clin Dysmorphol. 2004; 13: 43-44
- Femoral hypoplasia unusual facies syndrome from another viewpoint.Eur J Pediatr. 1978; 128: 1-5
- Bilateral femoral dysgenesis syndrome.Cleft Palate J. 1978; 15: 386-389
- Femoral hypoplasia—unusual facies syndrome.Aust Paediatr J. 1982; 18: 63-66
- Femoral hypoplasia unusual facies syndrome with preaxial polydactyly.Clin Dysmorphol. 1994; 3: 40-45
- Hyperglycemia and apoptosis: mechanisms for congenital malformations and pregnancy loss in diabetic women.Trends Endocrinol Metab. 2001; 12: 78-82
- Conserved regulation of mesenchymal gene expression by Fgf-8 in face and limb development.Development. 1999; 126: 221-228
- Dominant inheritance of femoral hypoplasia—unusual facies syndrome.Clin Genet. 1980; 17: 55-58
- Femoral-facial syndrome—prenatal diagnosis—autosomal dominant inheritance.Am J Med Genet. 1995; 57: 397-399
Article info
Publication history
Published online: June 06, 2006
Accepted:
April 12,
2006
Received:
January 15,
2006
Identification
Copyright
© 2006 Elsevier Inc. Published by Elsevier Inc. All rights reserved.