We have observed the association of non-thalidomide phocomelia and hypoplasia of the mandible (Pierr-Robin syndrome) in two unrelated infants. Baby boy C was born at term after a normal gestation. The mother was 29 and denied either illness or medication during pregnancy. Five months postpartum she had no glucosuria. The baby showed multiple deformities : both hands were hypoplastic with no visibly separate fingers. The right hand was more primitive than the left. X-ray revealed absence of the tubular bones of the metacarpals and phalanges bilaterally. The feet showed similar abnormalities. There was micrognathia, glossoptosis, cleft soft palate and tracheomalacia. Eyes and fundi were normal. The baby expired after numerous apneic spells associated with cyanosis.
Baby boy D was born at term to a 29-year-old mother who was hospitalized for schizophrenia during the pregnancy; she showed intermeittent glucosuria. The infant exhibited micrognathia, shortening of the right femur and bilateral club feet. X-rays showed the cortex of the femurs to be abnormally thick, and defects were noted in the vertebral bodies of the lower lumbar column. Ocular fundi were normal. The baby expired after a gastrostomy and repeated apneic episodes.
Cytogenetic studies on both patients were normal. Our two patients, together with the previously reported two cases [PASSARGE, Lancet i : 324, 1965 ; CENTA and ROVEI, Pathologica 57 : 245, 1965] appear to represent a distinct syndrome.
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Assemany, S., Kajii, T. & Gardner, L. Phocomelia With Mandibular Hypoplasia: A New Syndrome. Pediatr Res 4, 441–442 (1970). https://doi.org/10.1203/00006450-197009000-00033