The oto-palato-digital syndrome type II (OPD II), an X-linked semidominant multiple congenital anomalies syndrome with high male lethality (MIM 304120) and more than 100 anomalies reported in over 20 cases, shows phenotypic similarities to the X-linked dominant disorder described in males born to mothers with osteodysplasty (MIM 309350) named by Donnenfeld et al. [1987] the male lethal phenotype of Melnick-Needles syndrome (MLMNS). It has been suggested that these two syndromes are allelic [Blanchet et al., 1993;Holder and Winter, 1993;Robertson et al., 1997]. The current report identifies a newborn boy with findings of OPD II and some findings only previously observed in the MLMNS, supporting the hypothesis that the syndromes are allelic.
The propositus was a product of normal gestation and delivery except for threatened abortion during the 4th month. Birth weight was 3,120 g (25th centile), length 52 cm (50-75th centile), and OFC 36 cm (75th centile). Apgar scores were 7 and 8 at 1 and 5 minutes, respectively. Physical examination showed (Fig. 1) peculiar facial appearance, brachycephaly, large anterior fontanel, sutural diastasis, down-slanting palpebral fissures, hypertelorism, exophthalmos, large corneae and corneal opacity, ophthalmologically considered buphthalmos, low nasal bridge, short nose and columella, long philtrum, small down-turned mouth, severe micrognathia, high-arched palate, cleft soft palate and glossoptosis, broad alveolar ridges, inverted V-shaped cutaneous dimpling on chin, low-set malformed auricles with supralobular tubercle, and upper helix colobomata. He also had a short neck with redundant skin on the nape with capillary hemangioma, scoliosis, pectus carinatum, heart murmur, diastasis recti, grade I hypospadias, right cryptorchidism, hip, knee, elbow, and shoulder flexion contractures, bowed upper limbs, clenched hands with ulnar deviation and overlapping long fingers, proximal camptodactyly and clinodactyly, cutaneous syndactyly, thenar hypoplasia, single palmar crease with aberrant digital flexion creases, and