Rhizomelic Dysplasia, Patterson-Lowry Type
Clinical Features
Patterson and Lowry (1975) described a sporadic case of rhizomelic shortening of the limbs with predominant involvement of the humeri in an 86-year-old man. This patient also had deformity of the humeral heads and coxa vara. Williams et al. (1995) reported another sporadic case with similar clinical manifestations in a mentally normal 5-year-old boy. Platyspondyly, anomalous segmentation of the proximal humeral metaphyses, foreshortening and bowing of the humeri, brachydactyly, and brachymetacarpalia were the main roentgenologic abnormalities.
Kamoda et al. (2001) reported a third possible case of the Patterson-Lowry type of rhizomelic dysplasia in a 6-month-old Japanese boy with prominent rhizomelic shortness of the upper limbs. The infant also had respiratory distress and died of unknown cause at age 7 months.
Franceschini et al. (2004) reported 2 further patients, 1 Albanian and 1 Romanian. The disorder in these unrelated patients was characterized by very short humeri, coxa vara with proximal femoral epiphyseal involvement, and short metacarpals, metatarsals, and phalanges. Franceschini et al. (2004) suggested that despite the clinical and radiologic variability, the unique proximal metaepiphyseal appearance of the humeri makes the syndrome easily identifiable. The changes in the humeri were widening of proximal metaphyses, striking flattening of the proximal epiphyses, and lateral bulging of proximal diaphyses. All reported cases were sporadic and in no instance was parental consanguinity identified. Both males and females were affected.
Damar et al. (2014) reported 5- and 3-year-old sisters, born of consanguineous Turkish parents, with bilateral shortening and proximal metaphyseal enlargement and cupping of the humeri. The elder sister also had coxa vara deformity and dysplastic proximal femoral epiphyses. All other bones in both sisters were normal. Unlike previously reported patients with Patterson-Lowry rhizomelic dysplasia, both sisters had mental and motor retardation.
InheritanceDamar et al. (2014) suggested autosomal recessive inheritance of Patterson-Lowry rhizomelic dysplasia based on their report of 2 affected sisters born to first-cousin parents.