Acrofacial Dysostosis Syndrome Of Rodriguez

Clinical Features

Rodriguez et al. (1990) described 3 male sibs with a form of acrofacial dysostosis characterized by severe mandibular hypoplasia, phocomelia and oligodactyly of the upper limbs, absence of fibulas, microtia, cleft palate, internal organ anomalies including arrhinencephaly and abnormal lung lobulation, and early lethality. All 3 died neonatally from respiratory complications resulting from severe mandibular hypoplasia. The limb deficiencies were predominantly preaxial, and the postaxial limb anomalies were of rare types. They had severe hypoplasia of the shoulder and pelvic girdles, and cardiac and CNS malformations.

Rodriguez et al. (1990) suggested that the principal disorders that must be differentiated are Genee-Wiedemann syndrome (263750) and Nager syndrome (154400). Coloboma of the eyelids and accessory nipples, which are features of Genee-Wiedemann syndrome, were not present in the patients reported by Rodriguez et al. (1990).

Hecht (1992) suggested that the disorder reported by Hecht et al. (1987) as Nager syndrome might represent this disorder (see 154400). However, Rodriguez et al. (1992) concluded that the sibs reported by Hecht et al. (1987) indeed had Nager syndrome and that important differences distinguished it from Rodriguez lethal acrofacial dysostosis syndrome.

Fryns and Kleckowska (1991) described a possible case. Petit et al. (1992) described a lethal case in a female fetus. Wessels et al. (2002) argued that the cases reported by Fryns and Kleckowska (1991) and Petit et al. (1992) did not have Rodriguez lethal acrofacial dysostosis syndrome because they did not have the typical combination of symptoms, including severe phocomelia of the upper limbs, a typical angulated bone in the shoulder, aplasia of the fibulae, and internal anomalies such as abnormal lung lobulation and arrhinencephaly.

Wessels et al. (2002) described a case of Rodriguez lethal acrofacial dysostosis syndrome, identified by prenatal ultrasonography at 25 weeks' gestation. The parents of the female fetus were not related.

Sermer et al. (2007) reported a male fetus with Rodriguez acrofacial dysostosis in whom the diagnosis was made by prenatal ultrasound. At 22 weeks' gestation, an ultrasound showed absent upper limb and micrognathia. Another ultrasound at 24.1 weeks' gestation showed micrognathia, abnormal nose and maxillae, bilateral short humeri, missing radii and ulnae, 4 digits on each hand, only one long bone in the left calf, a clubbed left foot, and abnormalities of the right metatarsal bones on the right foot. The pregnancy was terminated and the autopsy and the skeletal survey confirmed the diagnosis. The parents were not related.

Inheritance

Wessels et al. (2002) and Sermer et al. (2007) suggested that Rodriguez acrofacial dysostosis is an autosomal recessive disorder.