Spondylothoracic Dysplasia with Diaphragmatic Defect: A Case Report with Literature Review

Abstract

Spondylothoracic dysplasia (Jarcho-Levin syndrome) is a syndrome of unknown etiology. We describe a new case with diaphragmatic eventration. Literature review for cases of Jarcho-Levin syndrome with diaphragmatic defects, which were six cases, revealed that renal affection increased when diaphragmatic defects associate the syndrome with pulmonary hypoplasia. Thus, the subgroup of spondylothoracic dysplasia with diaphragmatic defect is a more severe subgroup of the syndrome rather than the other forms of this syndrome. Relating the described anomalies in this case and that of the literature cases to the known embryological basis may point to a pivotal developmental link between lung, kidney and diaphragm, possibly the posterior mesenchyme.

Role of rectal myomectomy in refractory chronic constipation

“…Some patients improved even though the muscle biopsy specimen showed no ganglia along its whole length, possibly the remaining aganglionic segment is too short to cause further symptoms or this group represents a sub-group of sphincteric dysfunction group among the HD patients. [11] Patients with ultra-short-segment HD often present with constipation when solid food is introduced, after a normal neonatal course and often do not show coning on contrast enema [2] ; however, these patients show good response to anorectal myectomy, which also confirms the diagnosis. [2] The propulsive capability of the large bowel in HD does not necessarily coincide with the extent of aganglionosis.…”

“…Further intervention with other procedures is not affected by the myectomy and a considerable group of patients responded well to this procedure. [11] It is an excellent diagnostic and therapeutic procedure for various causes of refractory chronic constipation. [11,18,19] Its role as a primary diagnostic and therapeutic procedure for ultra-short-segment HD patients and internal sphincter achalasia has already been accepted.…”

“…[11] It is an excellent diagnostic and therapeutic procedure for various causes of refractory chronic constipation. [11,18,19] Its role as a primary diagnostic and therapeutic procedure for ultra-short-segment HD patients and internal sphincter achalasia has already been accepted. It has also been useful as a secondary procedure following definitive surgery after pullthrough when the symptom persists.…”

Segmentation anomalies of the vertebras and ribs: One expression of the primary developmental field

“…Moreover, the results of molecular genetic studies also support the fact that segmentation anomalies of the axial skeleton, whatever their degree of severity, are one of the different manifestations of the primary developmental field and, as such, constitute a polytopic (primary) DFD. Thus, it is not surprising that axial skeletal defects are observed in different groups of clinical disorders, as has also been documented by their embryological development, by epidemiological analysis, and by different molecular genetics studies [Delgoffe et al, 1982;Lin and Harster, 1993;Opitz, 1993Opitz, , 2002Aurora et al, 1996;Gilbert et al, 1996;Wei and Sulik, 1996;Shimizu et al, 1997;Turnpenny et al, 1999Turnpenny et al, , 2003Bulman et al, 2000;Shehata et al, 2000;Opitz et al, 2002;Sparrow et al, 2002;Bannykh et al, 2003]. In the same way, this is supported by their clinical and etiological heterogeneity.…”

Genetics of Congenital Diaphragmatic Hernia

“…Main features are a "fan-like" configuration of the chest in which the ribs appear to emanate from only a few vertebral bodies, additional cardinal abnormalities include malformed vertebrae and ribs, genitourinary abnormalities and hernias and CDH (Day & Fryer, 2003;Shehata et al, 2000).…”