Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: The presentation of brachymorphism-onychodysplasia- dysphalangism syndrome?

Clinical Dysmorphology

Volumn 7, Issue 1, 1998, Pages 45-50

  Õunap, Katrin ^a   Justus, Inna ^a   Lipping Sitska, Mari ^a  

^a UNIVERSITY OF TARTU   (Estonia)

Author keywords

Apical dystrophy; Brachymorphism onychodysplasia dysphalangism syndrome; Coffin Siris syndrome; Dubowitz syndrome

Indexed keywords

APLASIA; ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; CHILD; CLINODACTYLY; DUBOWITZ SYNDROME; FACE MALFORMATION; FEMALE; GROWTH DISORDER; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MICROCEPHALY; MICROGNATHIA; PHENOTYPE; PRIORITY JOURNAL; TELECANTHUS;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; FACIAL BONES; FEMALE; FOOT DEFORMITIES, CONGENITAL; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; MICROCEPHALY; PHENOTYPE; SYNDROME;

EID: 0031985172     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Chrzanowska KH, Krajewska-Walasek M (1987). The Dubowitz syndrome - one more case. Klin Pädiat 199: 370-372.
2. Hansen KE, Kirkpatrick SJ, Laxova R (1995). Dubowitz syndrome: long-term follow-up of an original patient. Am J Med Genet 55:161-164.
3. Küster W, Majewski F (1986). The Dubowitz syndrome. Eur J Pediatr 144:574-578.
4. Levy P, Baraitser M (1991). Coffin-Siris syndrome. J Med Genet 28:338-341.
5. Orrison WW, Schnitzler ER, Chun RWM (1980). The Dubowitz syndrome: further observations. Am J Med Genet 7:155-170.
6. Senior B (1971). Impaired growth and onychodysplasia. Short children with tiny toenails. Am J Dis Child 122:7-9.
7. Schinzel (1979). Trisomy 9p, a chromosome aberration with distinct radiologie findings. Radiology 130:125-133.
8. Swillen A, Glorieux N, Peeters M, Fryns J-P (1995). The Coffin-Sins syndrome: data on mental development, language, behavior and social skills in 12 children. Clin Genet 48:177-182.
9. Verloes A, Bonneau D, Guidi O, et al. (1993). Brachymorphism-onychodysplasia-dysphalangism syndrome. J Med Genet 30:158-161.
10. Wiedemann H-R, Kunze J (1995). Atlas der Klinischen Syndrome, 4th edition. Stuttgart: Schattauer, pp. 196-197.
11. Wilroy RS Jr, Tipton RE, Summitt RL (1978). The Dubowitz syndrome. Am J Med Genet 2:275-284.
12. Winter RM, Schroer RJ, Meyer LC (1993). Hands and feet. In Stevenson RE, Hall JG, Goodmann RM (ed.) Human malformations and related anomalies. Oxford: Oxford University Press, pp. 828-843.