[Jarcho-Levin and Casamassima syndromes: differential diagnosis and frequency in Spain]

Abstract

Objective: Jarcho-Levin syndrome is characterized by the presence of only costal-vertebral defects. However, this diagnosis has been used in any case presenting with costovertebral defects, whether associated to other congenital defects or not. Recently, it has been demonstrated that costovertebral defects constitute a developmental field defect and, because of this, they can be observed in different clinical and etiological patterns. On the other hand, Casamassima syndrome is characterized by the presence of costovertebral defects, genito-urinary anomalies and anal atresia, which make it easily distinguishable from Jarcho-Levin syndrome.

Patients and methods: We present the cases with Jarcho-Levin and Casamassima syndromes identified among 1,405,374 liveborn (LB) infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC).

Results: Frequencies of these two syndromes in the ECEMC are 0.2 per 100,000 LB for Jarcho-Levin syndrome and 0.3 per 100,000 LB for Casamassima syndrome. We present the clinical manifestations and other characteristics of all the cases registered with these syndromes in the ECEMC.

Conclusions: Jarcho-Levin syndrome is defined by the presence of costoveriebral defects without any other congenital defect. However, given that the alterations of the axial skeleton are a developmental field defect, they can be observed in different clinical-etiological patterns that should not be considered as Jarcho-Levin syndrome. Among these, Cassamassima syndrome can be clearly distinguished, being autosomal recessive as is Jarcho-Levin syndrome.