Serpentine fibula syndrome: Expansion of the phenotype with three affected siblings

Clinical Dysmorphology

Volumn 5, Issue 2, 1996, Pages 105-113

  Rosser, E M ^a   Mann, N P ^b   Hall, C M ^c   Winter, R M ^c  

^a CHURCHILL HOSPITAL   (United Kingdom)

^b ROYAL BERKSHIRE HOSPITAL   (United Kingdom)

^c Hospital for Sick Children   (United Kingdom)

Author keywords

bone dysplasia; serpentine fibula syndrome

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CLINICAL ARTICLE; COLOBOMA; CONGENITAL DISORDER; CONGENITAL HEART DISEASE; DYSOSTOSIS; FEMALE; FIBULA; HUMAN; INTESTINE MALROTATION; MALE; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; BONE AND BONES; COLOBOMA; FACE; FATAL OUTCOME; FEMALE; FIBULA; HEART DEFECTS, CONGENITAL; HERNIA, INGUINAL; HUMANS; INFANT; INTESTINES; KARYOTYPING; MALE; NUCLEAR FAMILY; PHENOTYPE; SYNDROME;

EID: 0029999708     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199604000-00002     Document Type: Article

References (12)

1. Dereymaeker AM, Christens J, Eeckles R, Heremans G, Fryns JP (1986): Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. Helv Paediat Acta 41: 339-351.
2. Donnerfeld AE, Conard KA, Roberts NS, Flint Borns P, Zachal EH (1987): Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. Am J Med Genet 27: 159-173.
3. Eggli K, Giudici M, Ramer J, Easterbrook J, Madewell J (1992): Melnick-Needles syndrome: four new cases. Pediatr Radiol 22: 257-261.
4. Exner GU (1988): Serpentine fibula-polycystic kidney syndrome. A variant of Melnick-Needles syndrome or a distinct entity? Eur J Pediatr 147: 544-546.
5. ter Haar B, Hamel B, Hendriks J, de Jager J (1983): Melnick-Needles syndrome; indication for an autosomal recessive form. Am J Med Genet 13: 369-375.
6. Hamel B, Draaisma J, Pinckers A, Boetes C, Hoppe R, Ropers H, Brunner H (1995): Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. Am J Med Genet 56: 312-316.
7. Kaplan P, Ramos R, Zackai EH, Bellah RD, Kaplan BS (1995): Cystic kidney disease in Hadju-Cheyney syndrome. Am J Med Genet 56: 25-30.
8. Krajewska-Walasek M, Winkielman J, Gorlin RJ (1987): Melnick-Needles syndrome in males. Am J Med Genet 27: 153-158.
9. Lamontagne AE (1991): Urological manifestations of the Melnick-Needles syndrome. A case report and review of the literature. J Urol 145: 1020-1021.
10. Majewski F, Enders H, Ranke MB, Voit T (1993): Serpentine fibula-polycystic kidney syndrome and Melnick-Needles syndrome are different disorders? Eur J Pediatr 152: 916-921.
11. ter Haar B, Hamel B, Hendricks J, de Jager J (1983): Am J Med Genet 13: 369-375.
12. Theander G, Ekberg O (1981): Congenital malformations associated with maternal osteodysplasty: a new malformation complex. Acta Radiol Diagn 22: 369-377.