|Year : 2016 | Volume
| Issue : 3 | Page : 209-212
Case series of spondylocostal dysostosis and associated congenital malformations
Narendra Rai, Neha Thakur
Department of Pediatrics, Hind Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
|Date of Web Publication||28-Sep-2016|
Dr. Neha Thakur
Hind Institute of Medical Sciences, Lucknow, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Spondylocostal dysostosis (SCD) is a rare anomaly of axial skeleton due to flawed embryological development characterized by malformed ribs, fused ribs, and hemivertebra. Case one: A newborn baby boy with right-sided polythelia, meningocele, fan-like configuration of 3 rd and 4 th rib, fused 5 th and 6 th rib, and 3 rd thoracic hemivertebra was delivered to a second gravid mother by elective cesarean section. Based on clinical examination and radiological picture, a diagnosis of SCD with meningocele with right-sided polythelia was made. Case two: Baby girl born to primigravida mother by cesarean section had hemivertebrae with multiple right-sided rib defects, short neck, preauricular ear tags, imperforate anus, and rectovaginal fistula. Very few cases of SCD have been reported in literature with neural tube defects (NTDs) with supernumerary nipple, none from developing country. Till now, there is limited literature regarding the associations of SCD none showing its association with the genitourinary system without NTDs. We need to study the causal associations of SCD with detailed genetic work up as it is not so uncommon as presumed.
Keywords: Jarcho-Levin syndrome, polythelia, spina bifida, spondylocostal dysostosis
|How to cite this article:|
Rai N, Thakur N. Case series of spondylocostal dysostosis and associated congenital malformations. J Clin Neonatol 2016;5:209-12
| Introduction|| |
Spondylocostal dysostosis (SCD) is a rare disorder due to genetic mutation resulting in abnormality of axial skeleton and associated rib deformities. There are very few case reports of SCD with associated malformations in literature, and this is the first case series to be reported in newborn from India. We present here two newborns who were having diagnosed with SCD with varying associations. Our first case had associated supernumerary nipple and meningocele. The second case has imperforate anus with rectovaginal fistula, short neck, and preauricular tags.
| Case Reports|| |
A full-term baby boy weighing 3 kg was born to a second gravid mother by emergency cesarean section; indication for cesarean was nonprogress of labor. Mother had a history of spontaneous abortion at 3 months of gestational age. Venereal diseases research laboratory (VDRL) was positive but Treponema pallidum hemagglutination assay was negative for the father. Mother and baby were both VDRL negative. Mother had taken treatment in the first trimester of pregnancy for mollascum contagiosum from a local physician, but the treatment was not documented so the use of teratogen could not be ruled out. HIV, hepatitis B surface antigen status of the mother was negative. No history of consanguinity was present. Baby cried immediately after birth, received routine care and was shifted to mother. On examination, the baby's vitals were stable, he was active, crying, moving all four limbs. He had malformations in the form of short neck, right-sided polythelia [Figure 1], and bunch of hairs on the lumbosacral vertebra (spina bifida occulta) [Figure 2]. An extra nipple was located rostral to the normal nipple and was more prominent than the normal nipple. On palpation, bony defects could be appreciated just below the extra nipple giving rise to a suspicion of the defective rib cage. There were no other associations in the form of dysmorphic facies, hernias, and imperforate anus. The rest of the systemic examination was normal. Baby passed urine immediately after birth and meconium at 6 h of life. He started accepting breastfeeds at 2 h of life.
In view of congenital malformations, chest X-ray, X-ray of the spine, ultrasonography (USG) cranium, USG abdomen, and USG spine were done. X-ray of spine anteroposterior and lateral view suggested fan-like configuration of 3rd and 4th rib fused 5th to 6th rib, and 3rd thoracic hemivertebra [Figure 3]. Echocardiography was normal. USG of the brain, kidney ureter, and bladder was normal. USG spine showed meningocele. Chromosomal analysis of the child was normal.
|Figure 3: Infantogram (anteroposterior and lateral view showing fan-like configuration of 3rd and 4th rib, fused 5th-6th rib, 3rd thoracic hemivertebrae)|
Click here to view
Baby was discharged at day 3 of life and is in the regular follow-up of our well baby clinic. He is at present 3 months of age and is doing well.
A full-term baby girl weighing 2.4 kg was born to a primigravida mother by emergency cesarean section; indication for cesarean was preeclampsia and decreased fetal movements. Mother was an unbooked case had come to the hospital for the first time with labor pains. There was no history of consanguinity, drug intake, exposure to radiation, and fever with a rash during pregnancy. There was no history of congenital malformations in the family. Baby cried after 1 min of birth following resuscitation with bag and mask ventilation. On examination, the baby's vitals at 1 min was a heart rate of 140 beats/min, respiratory rate of 82 beats/min, and SpO2 without O2 was 87% SpO2 with O2 was 94%. She had multiple malformations such as short neck, right-sided ear tags, and imperforate anus with rectovaginal fistula [Figure 4] and [Figure 5]. On palpation, bony defects could be felt just below the right nipple giving rise to a suspicion of the defective rib cage. The rest of the systemic examination was normal. Baby passed urine immediately after birth and meconium through vagina at 15 h of life. She was placed on oxygen through hood, intravenous (IV) fluid, and IV antibiotics. Attendants did not want further treatment hence took the child against medical advice at day 2 of life. In view of congenital malformations, chest X-ray showed hemivertebrae with multiple right-sided rib defects [Figure 6]. X-ray of the spine was normal. There was a septum pellucidum cyst measuring 9 mm × 8.2 mm in USG cranium. USG of abdomen and spine was normal. Two-dimensional echocardiography showed the small atrial septal defect. Chromosomal analysis of the child could not be done.
| Discussion|| |
SCD is a rare segmentovertebral anomaly caused due to the faulty embryological development of the axial skeleton during initial stages of gestation. Dominant rib anomaly differentiates it from spondylothoracic dysostosis. Patchy spinal involvement differentiates it from the Jarcho-Levin syndrome (JLS). JLS is the most severe form with very high incidence of neonatal mortality. Mode of transmission of all three forms is autosomal recessive. Segmentovertebral anomalies are generally found in association with other congenital anomalies like neural tube defects (NTDs)., There are studies which suggest an etiological link between NTD and segmental costovertebral defect. The rib abnormality shown in SCD is in general described as hemivertebrae and butterfly vertebrae. Besides NTD, other congenital malformation which has been infrequently reported is a supernumerary nipple. Duru et al. reported a 2-year-old female child with polythelia and rib deformity on the right side with NTD and bilateral foot deformities; chromosomal analysis was not done in that case. Yilmaz et al. presented a 2-year-old female child with thoracolumbar scoliosis, skin lesion, hypertrichosis, double nipples on the right side, and skin lesion on the back suggestive of split cord. The investigation further revealed that first four ribs were absent on the right side. There was an irregular appearance at the fifth with sixth ribs; chromosomal analysis was normal. There were many similarities between last two cases and our cases such as rib deformity and polythelia on the right side and associated NTD. Polythelia occurs in about 1% of the female population; it is an inheritable condition and the extra nipple usually develops just inferior to the normal breast. In our case, the extra nipple was more prominent than the normal nipple. This finding is similar to Yilmaz et al. case.
Dias and Walker explained about split cord malformations and other related complex dysraphic malformations. According to them, the embryogenesis of split cord malformations and related malformations occur due to the failure of midline axial integration during gastrulation; the primitive streak is abnormally wide, and the prospective notochordal cells in Hensen's node begin ingressing more laterally than normal resulting into separate notochordal and thus two hemicords. Laterally displaced somatic tissue results in vertebral segmentation anomalies such as butterfly vertebrae and hemivertebrae. The association of SCD with NTD may be a developmental anomaly as has been proposed previously. Five subtypes of SCD are documented, based on the primary gene involved. At least four gene mutations are known to cause SCD. Mutations in the DLL3 gene cause SCD Type 1, mutations in the MESP2 gene cause SCD Type 2, mutations in the LFNG gene cause SCD Type 3, and mutations in the HES7 gene cause SCD Type 4. The genetic cause of autosomal dominant SCD is unknown. The SCD genes play a role in the Notch signaling pathway, an important pathway in embryonic development. One of the functions of the Notch pathway is separating future vertebrae from one another during early development. Disruption of this pathway results in malformation and fusion of the bones of the spine and ribs as seen in SCD. Genetic mutation is found in a quarter of the diagnosed SCD. Researchers suggest that additional genes in the Notch signaling pathway might also be involved.
We have reported here two cases with spondylocostal dysostosis with varying associations. The first case had associated meningocele and suppernumary nipple. The second case had associated preauricular ear tags, short neck, imperforate anus, and rectovaginal fistula. Very few cases of SCD have been reported in literature with NTDs with supernumerary nipple, none from developing country. Till now, there is limited literature regarding associations of SCD none showing its association with the genitourinary system without NTDs.
We need to study the causal associations of SCD with detailed genetic work up as it is not so uncommon as presumed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
McCall CP, Hudgins L, Cloutier M, Greenstein RM, Cassidy SB. Jarcho-Levin syndrome: Unusual survival in a classical case. Am J Med Genet 1994;49:328-32.
Poor MA, Alberti O Jr, Griscom NT, Driscoll SG, Holmes LB. Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. J Pediatr 1983;103:270-2.
Duru S, Ceylan S, Güvenç BH. Segmental costovertebral malformations: Association with neural tube defects. Report of 3 cases and review of the literature. Pediatr Neurosurg 1999;30:272-7.
Giacoia GP, Say B. Spondylocostal dysplasia and neural tube defects. J Med Genet 1991;28:51-3.
Yilmaz MB, Kaymak A, Kurt G, Percin FE, Baykaner K. Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: A case report. Turk Neurosurg 2013;23:256-9.
Moore KL, Persaud TV, editors. Development of mammary glands. The Developing Human. 6 th
ed. Philadelphia: Saunders; 1998. pp. 520-2.
Dias MS, Walker ML. The embryogenesis of complex dysraphic malformations: A disorder of gastrulation? Pediatr Neurosurg 1992;18(5-6):229-53.
Sparrow DB, Chapman G, Smith AJ, Mattar MZ, Major JA, O′Reilly VC, et al.
A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell 2012;149:295-306.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]