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Eur J Med Genet. 2019 Apr 11. pii: S1769-7212(18)30827-9. doi: 10.1016/j.ejmg.2019.04.007. [Epub ahead of print]

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.

Author information

1
Department of Clinical Genetics, Aarhus University Hospital, Denmark. Electronic address: lisega@rm.dk.
2
Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Denmark.
3
Guy's and St Thomas NHS Trust, London, UK.
4
Centre for Rare Diseases, Copenhagen University Hospital, Denmark.
5
Department of Clinical Genetics, Copenhagen University Hospital, Denmark.
6
Department of Clinical Genetics, Hospital Lillebaelt, Denmark.
7
Department of Clinical Genetics, Aarhus University Hospital, Denmark.
8
Center for Oral Health in Rare Diseases, Department of Maxillofacial Surgery, Aarhus University Hospital, Aarhus, Denmark.
9
Department of Orthopaedic Surgery Aarhus University Hospital, Denmark.
10
Department of Radiology, Aarhus University Hospital, Denmark.
11
Resourcecenter for Rare Oral Diseases, Copenhagen University Hospital, Denmark.
12
Department of Clinical Genetics, Aarhus University Hospital, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Denmark.

Abstract

We present five Danish individuals with Hajdu-Cheney syndrome (HJCYS) (OMIM #102500), a rare multisystem skeletal disorder with distinctive facies, generalised osteoporosis and progressive focal bone destruction. In four cases positive genetic screening of exon 34 of NOTCH2 supported the clinical diagnosis; in one of these cases, mosaicism was demonstrated, which, to our knowledge, has not previously been reported. In one case no genetic testing was performed since the phenotype was definite, and the diagnosis in the mother was genetically confirmed. The age of the patients differs widely from ten to 57 years, allowing a natural history description of the phenotype associated with this ultra-rare condition. The evolution of the condition is most apparent in the incremental bone loss leading to osteoporosis and the acro-osteolysis, both of which contribute significantly to disease burden.

KEYWORDS:

Acro-osteolysis; Genetic diseases; Hajdu-Cheney syndrome; Mosaicism; NOTCH2; Osteoporosis; Rare diseases

PMID:
30980954
DOI:
10.1016/j.ejmg.2019.04.007

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