Unusual facies, cleft palate, mental retardation, and limb abnormalities in siblings—a new syndrome

Familial broad terminal phalanges with one individual showing additional anomalies

“…Our propositus resembles the patients of Palant et al [1971] on the basis of unusual face, cleft palate, mental retardation, and broadening of distal phalanges of toes, but, except for the last anomaly, all the other limb abnormalities were absent. Khalifa and Graham [1994] described a patient and his mother with pterygium colli, craniofacial abnormalities, mental retardation, and broad terminal phalanges.…”

“…Two sisters were reported by Palant et al [1971] with mental retardation, short stature, unusual facial appearance, cleft palate, camptodactyly of the fourth and fifth fingers, broad distal phalanges of the toes, partial syndactyly of the second and third toes, clinodactyly of the second toes, and valgus deformity of the right foot. Our propositus resembles the patients of Palant et al [1971] on the basis of unusual face, cleft palate, mental retardation, and broadening of distal phalanges of toes, but, except for the last anomaly, all the other limb abnormalities were absent.…”

“…In the McKusick catalogue [1994] there is no entry entitled ''broad terminal phalanges.'' Extensive review of the literature in the Index Medicus and Medline, apart from RTS and from syndromes described by Palant et al [1971] and Khalifa and Graham [1994], failed to locate similar conditions. It is of interest that a few families with a syndrome similar to the RTS (MIM 180850) [Cotsirilos et al, 1988;Bonioli and Bellini, 1989;McKusick, 1994] have been described, where some relatives had exclusively broad terminal phalanges segregating in an autosomal dominant manner with incomplete penetrance [Berry, 1987].…”

Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies

“…Severe mental retardation with poor growth, cleft palate, bulbous tip of the nose, and bilateral camptodactyly was reported by Palant et al [1971] in 2 sisters, ages 17 and 10 years. These sisters additionally had upward slant of eyes and non bony prominences on the wrists, but they lacked eye and intestinal anomalies seen in the sibs in this report.…”

Dominantly inherited syndrome of microcephaly and cleft palate

“…To our knowledge there have been no reports of a familial syndrome that includes all of the findings present in our patients. Most syndromes with microcephaly and cleft palate are sufficiently different to preclude consideration in the present family [Fraser, 1970; Palant et al, 1971; Gorlin et al, 1976; Stewart and Prescott, 1976; Weaver and Williams, 1977; Shprintzen et al, 19781.…”