Literature DB >> 8276023

Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.

F Majewski1, H Enders, M B Ranke, T Voit.   

Abstract

We report on the third patient with serpentine fibula-polycystic kidney syndrome. Main features in the three reported cases were growth retardation, abnormal face, hirsutism, short neck, bowed forearms and lower legs due to bowed radii and elongated serpentine fibulae, and metatarsus adductus. Two patients including our own were deaf. All were mentally normal, all were female and sporadic. In addition, we report on a girl with Melnick-Needles syndrome and illustrate the similarities and differences between these syndromes.

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Year:  1993        PMID: 8276023     DOI: 10.1007/bf01957530

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  16 in total

1.  Melnick-Needles osteodysplasia associated with pulmonary hypertension, obstructive uropathy and marrow hypoplasia.

Authors:  R B Klint; M H Agustsson; W H McAlister
Journal:  Pediatr Radiol       Date:  1977-07-25

2.  Hyperlaxity in males with Melnick-Needles syndrome.

Authors:  J P Fryns; A Schinzel; H Van den Berghe
Journal:  Am J Med Genet       Date:  1988-03

3.  [Osteodysplasty (Melnick-Needles syndrome)].

Authors:  P Maroteaux; L Chouraki; F Coste
Journal:  Presse Med       Date:  1968-03-27       Impact factor: 1.228

4.  [The Melnick-Needles Syndrome. Presentation of a case].

Authors:  T de Toni; A Naselli; M L Graziano; G Hanau; M T Duillo
Journal:  Minerva Pediatr       Date:  1983-05-15       Impact factor: 1.312

5.  Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity.

Authors:  A M Dereymaeker; J Christens; R Eeckels; G Heremans; J P Fryns
Journal:  Helv Paediatr Acta       Date:  1986-10

6.  Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).

Authors:  P von Oeyen; L B Holmes; R L Trelstad; N T Griscom
Journal:  Am J Med Genet       Date:  1982-12

7.  Osteodysplasty (Melnick and Needles syndrome). Report of a case.

Authors:  F Coste; P Maroteaux; L Chouraki
Journal:  Ann Rheum Dis       Date:  1968-07       Impact factor: 19.103

8.  Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome.

Authors:  A E Donnenfeld; K A Conard; N S Roberts; P F Borns; E H Zackai
Journal:  Am J Med Genet       Date:  1987-05

9.  Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?

Authors:  G U Exner
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

10.  Frontometaphyseal dysplasia: autosomal dominant or X-linked?

Authors:  P Beighton; H Hamersma
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

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  8 in total

Review 1.  Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations.

Authors:  Ernesto Canalis; Stefano Zanotti
Journal:  Curr Osteoporos Rep       Date:  2016-08       Impact factor: 5.096

Review 2.  Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders.

Authors:  Ernesto Canalis
Journal:  Metabolism       Date:  2017-08-24       Impact factor: 8.694

3.  Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Authors:  Mary J Gray; Chong Ae Kim; Debora Romeo Bertola; Paula Ricci Arantes; Helen Stewart; Michael A Simpson; Melita D Irving; Stephen P Robertson
Journal:  Eur J Hum Genet       Date:  2011-06-29       Impact factor: 4.246

4.  Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.

Authors:  K Devriendt; L D'Espallier; J P Fryns
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

Review 5.  Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.

Authors:  Guido Currarino
Journal:  Pediatr Radiol       Date:  2008-09-25

Review 6.  Notch signaling in skeletal health and disease.

Authors:  Stefano Zanotti; Ernesto Canalis
Journal:  Eur J Endocrinol       Date:  2013-05-08       Impact factor: 6.664

7.  Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome.

Authors:  L Swan; G Gole; V Sabesan; J Cardinal; D Coman
Journal:  Case Rep Genet       Date:  2018-10-21

Review 8.  Hajdu-Cheney syndrome: a review.

Authors:  Ernesto Canalis; Stefano Zanotti
Journal:  Orphanet J Rare Dis       Date:  2014-12-10       Impact factor: 4.123

  8 in total

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