Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature

Abstract

Spondylocostal dysostosis (SCDO) is rare anomaly caused due to flawed embryological development of the axial skeleton during preliminary stages of gravidity, characterized by malformed vertebral column and ribs, abridged thorax and kyphoscoliosis. This entity was also reported as a “Jarcho–Levin syndrome” eponym by erstwhile authors, before the introduction of genetic based classification. A literature review showed only three cases of this clinical entity with lipomyelomeningocele. We report the fourth case report of an infant with SCDO with lipomyelomeningocele. His chest X-ray displayed absent left side 6th–8th ribs with peculiar fan like configuration, making the heart vulnerable to any direct injury. Special care has to be taken for such patients who need surgical procedure in the prone position.

Mind the gap: an unusual case of a cervical lipomyelocele

“…SCDO is a rare anomaly of the axial skeleton characterized by multiple vertebral and numerical or structural rib anomalies that result in thoracic asymmetry, short neck, and kyphoscoliosis [1] , [2] , [3] . Saul Jarcho and Paul Levin originally described this entity in 1938 as an entity distinct from Klippel–Feil syndrome.…”

“…Saul Jarcho and Paul Levin originally described this entity in 1938 as an entity distinct from Klippel–Feil syndrome. Since that time, five subgroups of SCDO have been recognized based on genetics and the Jarcho–Levin syndrome is considered SCDO1 [2] . Four genes with roles in the notch signaling pathway have been identified— DLL3 , MESP2 , LNFG , and HES7 —, and inheritance is typically autosomal recessive, but autosomal dominant cases are also described [1] , [4] .…”

“…Spondylocostal dysostosis (SCDO) is a form of short-trunk dwarfism characterized by multiple vertebral and rib abnormalities. Other congenital anomalies may coexist, for which these patients should be thoroughly screened, and include congenital heart disease, genitourinary abnormalities, umbilical, diaphragmatic or inguinal hernias, Chiari malformation, and rarely neural tube defects [1] , [2] . Almost 400 cases of SCDO have been described, rarely with associated diaphragmatic hernias and neural tube defects; these 2 defects are, however, present in this patient [1] .…”

“…Almost 400 cases of SCDO have been described, rarely with associated diaphragmatic hernias and neural tube defects; these 2 defects are, however, present in this patient [1] . To date, 18 cases associated with neural tube defects are described, 4 of which are terminal lipomyelomeningoceles [2] . We present a case of cervical lipomyelocele, which to our knowledge has not yet been described as a form of cervical dysraphism, in a case with typical features of SCDO.…”

Infant of a Diabetic Mother with Spondylocostal Dysostosis and Multiple Congenital Anomalies

“…Spondylocostal dysostosis (SCD) and spondylothoracic dysostosis (STD) are the subtypes of Jarcho-Levin Syndrome, which show a hereditary picture. Autosomal dominant, autosomal recessive, and sporadic cases have been described in the literature (1,2). The prevalence of this syndrome has been reported as 0.25/10.000.…”