A whistling face syndrome case with bilateral skin dimples

Genetic Counseling

Volumn 16, Issue 1, 2005, Pages 71-73

  Buyukavci, Mustafa ^a,c   Tan, H ^a   Eren, S ^a   Balci, S ^b  

^a ATATURK UNIVERSITY   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

^c ATATÜRK UNIVERSITY   (Turkey)

Author keywords

Skin dimple; Whistling face syndrome

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHIN; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; FREEMAN SHELDON SYNDROME; GENE MUTATION; HUMAN; JOINT CONTRACTURE; LIMB MALFORMATION; MALE; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PRESCHOOL CHILD; SKIN DIMPLE; SKIN MANIFESTATION; SYNDROME DELINEATION; THYMUS HYPERPLASIA; WHISTLING FACE SYNDROME;

ARTHROGRYPOSIS; BONE DISEASES, DEVELOPMENTAL; CARPAL BONES; CHILD, PRESCHOOL; CRANIOFACIAL DYSOSTOSIS; FACE; HUMANS; KARYOTYPING; MALE; PHENOTYPE; SKIN ABNORMALITIES; SYNDROME; TARSAL BONES;

EID: 16444366764     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. BAMSHAD M., JORDE L.B., CAREY J.C.: A revised and extended classification of the distal arthrogryposes. Am. J. Med. Genet., 1996, 65, 277-281.
2. HAMMOND K.: Skin dimples and rubella. Pediatrics, 1967, 39, 291-292.
3. JONES K.L.: Smith's Recognizable Patterns of Human Malformation. Philadelphia, W.B. Saunders, 1997.
4. KRAKOWIAK P.A., BOHNSACK J.F., CAREY J.C., BAMSHAD M.: Clinical analysis of a variant of Freeman-Sheldon Syndrome (DA2B). Am. J. Med. Genet., 1998, 76, 93-98.
5. MILLNER M.M., MUTZ I.D., ROSENKRANZ W.: Whistling face syndrome. A case report and literature review. Acta. Paediatr. Hung., 1991, 31, 279-289.
6. SPENCER J.M., SCHNEIDERMAN P.I., GROSSMAN M.E.: Bilateral skin dimples on the shoulders. Pediatr. Dermatol., 1993, 10(1), 16-18.
7. WENDLING D., BLANC D., HORY B.: Skin dimples in hypophosphatasia. Dermatologica, 1989, 178, 179-180.
8. ZAMPINO G., CONTI G., BALDUCCI F., MOSCHINI M., MACCHIAIOLO M., MASTROIACOVO P.: Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss. Am. J. Med. Genet., 1996, 62, 293-296.