Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects

Çetinkaya, M Çağatay; Özkan, Hilal Burcu; Köksal, Nilgün; Yazıcı, Zeynep; Yalçinkaya, Ülviye

doi:10.1097/mcd.0b013e3282f2699c

Cited by 15 publications

(21 citation statements)

References 10 publications

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“…Costal anomalies associated with myelomeningocele have been described as costal deficiency, costal fusion, and irregular or bicephalic ribs (3,30). In our series, costal anomalies were detected in 22 patients (23.4%).…”

Section: Discussionmentioning

confidence: 59%

Statistical analysis of associated vertebra and costal anomalies in spina bifida patients

Alataş¹,

Canaz²,

Saraçoğlu³

et al. 2016

Romanian Neurosurgery

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Abstract:Objective: Spina bifida is one of the most severe birth defects and can happen as a result of disrupted primary neurulation. Congenital vertebra and costa anomalies are more frequently seen with spina bifida, and associated anomalies significantly affect the prognosis of affected children. In this study, we aimed to determine the incidence of scoliosis, costal anomalies, and vertebral deformations seen at the time of diagnosis and to statistically evaluate their concomitancies. Methods: Gender and mean ages of the patients were determined. The spina bifida patients were examined for deformation anomalies, butterfly vertebra, hemivertebra, wedge vertebra, costal anomalies and scoliosis. The relationships between these anomalies were evaluated. Results: 94 patients with a mean age of 11,5 months examined. The incidence of scoliosis was 21.8% among female infants and 17.9% among males. Rates of scoliosis with vertebra anomalies (hemivertebra, wedge vertebra) and costal anomalies did not differ significantly (P > 0.05). Wedge vertebra were the most frequent vertebra anomaly type with 38.2% ratio. Costal anomalies were detected in 25.5% of females and 20.5% of male infants. Hemivertebra and wedge vertebra were seen significantly more frequently in this group. Gender distribution did not differ between with and without any vertebra types. Conclusion: Congenital vertebra and costa anomalies are more frequently seen with spina bifida. We believe that these anomalies and relationship with spina bifida may demonstrate differences among different ethnic groups or locations. More detailed multi-centered studies performed on this issue will aid in the determination of etiologies, genetics, and treatment principles of these congenital anomalies.

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Section: Discussionmentioning

confidence: 59%

Statistical analysis of associated vertebra and costal anomalies in spina bifida patients

Alataş¹,

Canaz²,

Saraçoğlu³

et al. 2016

Romanian Neurosurgery

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“…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.…”

Section: Discussionmentioning

confidence: 99%

“…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]. To date, 18 cases associated with neural tube defects are described, 4 of which are terminal lipomyelomeningoceles [2].…”

Section: Introductionmentioning

confidence: 99%

Mind the gap: an unusual case of a cervical lipomyelocele

Valeur

Iyer

Ishak

2016

Radiology Case Reports

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Cervical dysraphism is rare, and the 3 recognized subtypes manifest as cystic, skin-covered masses. To our knowledge, no case of cervical lipomyelocele has been reported in the literature so far. We present a case of surgically and pathologically confirmed cervical lipomyelocele in a patient with spondylocostal dysostosis and multiple other congenital anomalies and a brief review of the literature. In this case, magnetic resonance imaging demonstrates fat extension into a dysraphic cervical spinal canal, allowing for preoperative diagnosis. Computed tomography using 3-dimensional reconstruction serves to more clearly characterize the extensive spine malsegmentation characteristic of spondylocostal dysostosis. The use of this technique is suggested to benefit the orthopedic or neurologic surgeon confronted with such complex malformations.

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“…These abnormalities cause thoracic asymmetry and short stature and neck [11]. Forms of rib anomalies are absence, posterior fusion and irregular or bifid ribs [6,9]. …”

Section: Discussionmentioning

confidence: 99%

“…Restrictive lung disease, pulmonary hypertension, congestive heart failure, and respiratory infections can be seen in STD [5]. Congenital heart defects, abdominal wall malformations, urogenital and anal abnormalities, multiple skeletal anomalies, upper limb anomalies, spina bifida, and inguinal, umbilical and diaphragmatic hernias can be seen as components of JLS [6,7]. …”

Section: Introductionmentioning

confidence: 99%

Neural Tube Defects in Jarcho-Levin Syndrome: Study of Twenty-Eight Cases

Alataş

Canaz²,

Akkoyun³

et al. 2015

Pediatr Neurosurg

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Jarcho-Levin syndrome (JLS) is a congenital disorder consisting of various vertebral and costal anomalies. Congenital heart defects, abdominal wall malformations, urogenital and anal abnormalities, multiple skeletal anomalies, upper limb anomalies, spina bifida, and inguinal, umbilical and diaphragmatic hernias can be seen as components of JLS. Spina bifida appears to be a common finding in reported JLS cases. We retrospectively reviewed the medical records, plain X-rays and MRIs of patients with spina bifida between 2010 and 2014 and discussed the results.

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Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects

Cited by 15 publications

References 10 publications

Statistical analysis of associated vertebra and costal anomalies in spina bifida patients

Statistical analysis of associated vertebra and costal anomalies in spina bifida patients

Mind the gap: an unusual case of a cervical lipomyelocele

Neural Tube Defects in Jarcho-Levin Syndrome: Study of Twenty-Eight Cases

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