The oto‐palato‐digital syndrome, proposed type II

Abstract

We present a follow-up of the infant with oral, cranial, facial, and limb abnormalities described by us in 1976. Since then, several other very similar cases have been reported. We propose that this syndrome be called the oto-palato-digital syndrome, type II.

Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred

“…Affected females also have micrognathia, exophthalmos, and maloccluded teeth. In contrast, the reported maternal carrier phenotype in OPD II is confined to mild craniofacial anomalies, with occasional instances of associated cleft palate and skull bone sclerosis [Fitch et al, 1983;Brewster et al, 1985, Preis et al, 1994. Notably, the carriers in this kindred demonstrate findings intermediate between these two syndromes.…”

“…These male infants reported as OPD II [Kozlowski et al, 1977;Fitch et al, 1983;Kaplan and Maroteaux, 1984;Stillman et al, 1991;Preis et al, 1994;Stoll and Alembik, 1994] express the characteristic skeletal and clinical anomalies of OPD II as outlined in Table II, have prolonged survival, and demonstrate omphalocele, cleft palate, and genitourinary abnormalities as variable findings. This milder phenotype in OPD II may represent a less disabling mutation than the lesions within the same gene that lead to lethal MNS/ OPD II.…”

Molecular pathology of filamin A: diverse phenotypes, many functions

“…This group includes OPD1, otopalatodigital syndrome type 2 (OPD2; Fitch et al, 1976Fitch et al, , 1983, frontometaphyseal dysplasia (FMD; Gorlin and Cohen, 1969) and Melnick-Needles syndrome (MNS; Melnick and Needles, 1966). The evidence for relatedness has rested predominantly on clinical observations of phenotypic similarities, occurrence of overlap phenotypes and a reported instance of two disorders arising in two male siblings (Superti-Furga et al, 1987;Horn et al, 1995;Verloes et al, 2000).…”

“…OPD2 is characterized by a skeletal dysplasia (an undermineralized calvarium, skull base sclerosis, thoracic hypoplasia, bowed long bones, metaphyseal flaring, undermodelling of the small bones of the hands and feet, hypoplasia/ aplasia of the thumbs and great toes), cleft palate, deafness, septal and right ventricular outflow tract cardiac defects, omphalocoele, hydronephrosis and hypospadias (Fitch et al, 1976(Fitch et al, , 1983André et al, 1981;Brewster et al, 1985;Ogata et al, 1990;Preis et al, 1994;Stratton and Bluestone, 1991;Young et al, 1993;Robertson et al, 1997;Savarirayan et al, 2000;Verloes et al, 2000). In contrast to OPD1, malformations of the central nervous system (hydrocephalus, cerebellar hypoplasia) are observed (Stratton and Bluestone, 1991) and developmental delay in surviving males is commonly described.…”

A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype–genotype correlation

“…OPD syndrome is classified into two types according to clinical severity: the mild form OPD I (OMIM: 311300), and the severe form OPD II (OMIM: 304120; Taybi 1962;Dudding et al 1967;Fitch et al 1976Fitch et al , 1983Brewster et al 1985). Furthermore, several patients have been reported to have overlapping clinical features among OPD I and II, Larsen syndrome, atelosteogenesis I and II, boomerang dysplasia, the lethal male Melnick-Needles syndrome, and acro-coxo-melic dysplasia (Plauchu et al 1984;Blanchet et al 1993;Nishimura et al 1997;Robertson et al 1997;Verloes et al 2000).…”