Further evidence that the Hajdu-Cheney syndrome and the ?serpentine fibula-polycystic kidney syndrome? are a single entity

Abstract

The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder. It comprises a coarse face, short neck, hirsutism, joint laxity, and normal intelligence. Bone dysplasias, include acro-osteolysis, bathrocephaly, and vertebral anomalies. In 1988, Exner [1988: Eur J Pediatr 147:544-546] coined the term "serpentine fibula-polycystic kidney syndrome" (SFPKS) when he reported on a girl with short stature, unusual facial appearance, polycystic kidneys, and elongated curved fibulae. He postulated that it was a new entity different from the Melnick-Needles syndrome. Since his report, five similar cases have been published. Similarities between both HCS and SFPKS were noticed first by us and then by other authors. In this report we show that many clinical and radiological characteristics are shared by the HCS and the SFPKS and hypothesize that they represent a single entity with a variable degree of expression.

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders

“…Postmortem autopsy, radiographs and histology suggested SFPKS. Previous reports have noted the phenotypic similarities between SFPKS and HCS [Kaplan et al, ; Fryns et al, ; Ramos et al, ]. Phenotypic comparisons between AGS, HCS, SFPKS and this case are illustrated in Table and as listed in the table, the abnormalities identified in the case are characteristic for the NOTCH2 spectrum of disease.…”

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome

“…Previously the delineation of these two disorders has primarily been through the presence of serpentine fibulae in SFPKS, while individuals with HCS have acroosteolysis and coarse hirsute facial features. However, both conditions have cystic renal disease as a phenotypic feature and serpentine fibulae have also been documented in HCS cases 8,11 casting doubt on these conditions being distinct. Case one 5 was originally reported as an example of familial SFPKS, but her phenotype has evolved into a more typical HCS presentation complete with acrosteolysis.…”

Phenotypic overlap in Melnick–Needles, serpentine fibula–polycystic kidney and Hajdu–Cheney syndromes: a clinical and molecular study in three patients

“…Broad phenotypic similarities have been observed between MNS, HCS and SFPKS (Table 1; Majewski et al, 1993;Hamel et al, 1995;Kaplan et al, 1995;Ramos et al, 1998;Brennan and Pauli, 2001). Prominent eyes, full cheeks, dental anomalies, micrognathia, bowed bones, vertebral anomalies and congenital heart disease have been reported in all three of these disorders.…”

“…Fryns et al (1997) reported a 36-year-old HCS patient with cystic kidney disease, also prompting the conclusion that HCS and SFPKS are variants of the same disease. After revision of the reported patients in the literature, Ramos et al (1998) concluded that both conditions represent a single entity with a variable degree of expression.…”