A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance. (J Med Genet 1993;30:65-9) Limb/pelvis-hypoplasia/aplasia syndrome was defined by Raas-Rothschild et Radiographic examination (figs 2 and 3) showed a poorly ossified calvarium and pseudarthrosis of the right clavicle; traumatic fractured left humerus, shortened and bowed radii, absent ulnae, and hypoplasia/aplasia of the metcarpals and phalanges; underdeveloped iliac bones and absent pubic bones; aplastic femora, hypoplastic tibiae, absent fibulae, and hypoplasia/aplasia of the tarsals, metatarsals, and phalanges. Ultrasonographic examination showed no abnormalities of internal organs. The infant died aged 16 days of respiratory distress. No necropsy was performed. CASE 2Case 2, a female, was the sister of case 1. Inexplicably, no fetal ultrasonography was performed before 30 weeks of gestation. At this time it showed a fetus with normal humeri, shortened and bowed radii, absent ulnae, and dysplastic, short lower limbs. The infant was delivered at 39 weeks by caesarian section. Birth weight was 3300 g (50th centile), birth length 41 cm (<3rd centile), head circumference 32-5 cm (3rd centile), and chest circumference 35 cm (90th centile). She showed a similar phenotype to case 1 (fig 4). Ultrasonographic examination indicated no abnormalities of the internal organs. X ray examination (figs 5 and 6) showed a poorly ossified skull, pseudarthosis of the right clavicle, bowed radii, absence of the ulnae, hypoplastic pelvic bones, hypoplastic femora, slender tibiae, absent fibulae, and hypoplasia/ aplasia of the metacarpals, tarsals, metatarsals, and phalanges. The spine was considered to be normal.The clinical and radiological findings in our patients, compared with those cases described by Al-Awadi et aP and by Raas-Rothschild et all are reported in tables 1 and 2. Discussion

We report on a boy in the fourth family known to be affected with sponastrime dysplasia. The clinical and radiological features are presented. In this patient, the ossification delay was severe. The pattern of inheritance of this condition is discussed.

Oral-facial-digital syndromes (OFDS) constitute a heterogeneous group of entities whose clinical manifestations are often overlapping. We report on a 23-week-old aborted fetus who showed a transitional phenotype between OFD II and OFD VI syndromes.

We report on a father and daughter in the second known family affected with F-syndrome. The first family, with 8 affected members, was reported by Grosse et al. [1969: BD:OAS V (3):48-63]. F-syndrome, an autosomal-dominant trait, is mainly characterized by acral defects that may also involve the sternum and the lumbosacral spine. Synostoses between capitate and hamate, and between talus and navicular, are invariably present; other carpal and tarsal bones are sometimes incorporated into the fusion. The hand malformation is principally a malformation of the first 2 rays. In our patients, the short and malformed thumb was webbed with the index finger, which was radially deviated with duplication of the middle and distal phalanges. In the feet, polydactyly and severe metatarsal and toe anomalies were present. The father had a prominent sternum with pectus excavatum, whereas the daughter had no sternal deformity. Both of them had a mild failure of fusion of posterior arch L5 and/or S1.

We describe a new family with synpolydactyly (syndactyly type II) with 8 affected members in 4 generations. Aplasia/hypoplasia of the middle phalanges of the toes was also noted. In our opinion, this anomaly represents a frequent manifestation of synpolydactyly. No other major skeletal or extraskeletal malformations were present.