Family Resource Network
Are Melnick-Needles syndrome and
oto-palato-digital syndrome type II allelic?
Observations in a four-generation kindred.
Robertson S, Gunn T, Allen B, Chapman C, Becroft D.
Starship Children's Hospital, Auckland, New Zealand.
Melnick-Needles syndrome (MNS) is a female-limited skeletal dysplasia inherited in a
X-linked dominant pattern. Males born to women with MNS may exhibit lethal multiple
congenital anomalies, but recurrence of this phenotype within one family has not been
reported. Males with oto-palato-digital syndrome type II (OPD II) also demonstrate a
multiple congenital anomalies phenotype that includes skeletal dysplasia but the maternal
phenotype includes only mild craniofacial anomalies. These two syndromes have been
suggested as being allelic despite differences in the described maternal phenotypes. We
present a four-generation kindred in which four males had a consistent multiple congenital
anomalies phenotype. The females in this family have skeletal changes characteristic of
MNS but have only mild craniofacial anomalies and also deafness attributable to ossicular
deformity, traits more commonly found in OPD II. The expression of manifestations of
MNS and OPD II in males and females in this kindred further suggest that these
syndromes are allelic.
PMID: 9268106 [PubMed - indexed for MEDLINE]