28 AJTCCM VOL. 30 NO. 1 2024
CORRESPONDENCE: CASES
To the editor: Costovertebral malformations
were rst described by Saul Jarcho and Paul
Levin in 1938.[1] Various terms, including
costovertebral dysplasia, spondylocostal
dysplasia or dysostosis (SCD or SCDO),
Jarcho-Levin syndrome, Lavy-Moseley
syndrome, or spondylothoracic dysostosis
(STD) or dysplasia have been used.[1] Berdon
et al.[1] distinguished SCD from STD in their
review of early cases based on the clinical
features and genotypes available at the time.
ese malformations have both autosomal
recessive and dominant genes affecting
the notch signalling pathway that controls
somitogenesis and axial skeletogenesis
in embryogenesis.[2,3] The International
Consortium for Vertebral Anomalies and
Scoliosis classifies segmentation defects
of the vertebrae (SDVs) into seven broad
phenotypes including SCD and STD, based
on radiological and clinical features.[3] e
global incidence is not well known, but a
Spanish registry of congenital anomalies
showed that 264 of 1052 517 live births had
SCDO, of which 15 were the Jarcho-Levin
phenotype.[4] There are few case reports
from sub-Saharan Africa.[5,6] Imaging
shows characteristic vertebral and thoracic
anomalies involving fusion of the ribs
and hemivertebrae, giving the ribcage a
‘crab-like’ appearance, kyphoscoliosis, and
other associated visceral organ anomalies.
[1-3] Prenatal three-dimensional (3D)
ultrasound as early as 12 weeks can visualise
increased fetal nuchal transparency, absent
or deformed ribs, deformed vertebrae and
distorted spinal architecture including
shortening, kyphoscoliosis and spina bida.
[7] Prenatal carrier gene testing for high-
risk couples and pre-implantation genetics
for the known SDV genotypes is possible.
[3] Mortality is high in infancy as a result of
respiratory failure and pneumonia.[1,3] In the
following case seen at our institution, a baby
presented with symptoms of pneumonia
and sepsis and was found to have thoracic
malformations on imaging. We obtained
consent from the hospital Head of Clinical
Services and the Ethics and Research
Committee to publish this case report, and
we have maintained patient anonymity
A term female baby weighing 2 940 g
was noted to have developed persistent
respiratory distress soon after delivery
at a different facility. She was on oxygen
therapy but was not ventilated, and was
treated for neonatal sepsis and respiratory
insufficiency for 2 weeks in the newborn
unit (NBU). She presented at our facility at
6 weeks of age with acute-onset cough, fever,
vomiting and diculty in breathing. A chest
radiograph had conrmed the presence of
vertebral and rib anomalies, and she had
a small patent ductus arteriosus, detected
by echocardiography while in the NBU.
No maternal illness and no teratogenic
or environmental exposures were noted,
and there was no parental consanguinity
or family member with a similar skeletal
disorder. She had been immunised on
schedule, and had achieved appropriate
motor and growth milestones for her age.
No feeding or breathing difficulties had
been reported since discharge home from
the NBU.
A rare costovertebral malformation in a Kenyan infant
A B
C
*
**
Fig. 1. (A) Chest radiograph. Arrow: rib deformities, absent posterior lower ribs and reduced right
lung volume. Top asterisk: fusion of ribs and deformed vertebrae. Bottom asterisk: rib hypoplasia,
which is bilateral. Spinal asterisk: hemivertebrae and mild scoliosis. Le vertebral line: pedicular
prominence (‘tramline’ sign). Le lung opacication is also noted. (B) Posterior view of the three-
dimensional reconstruction of the spine and ribs, showing a ‘crab-like’ ribcage. Absent 1st ribs
bilaterally. Top right asterisk: fused posterior ribs bilaterally and fused vertebral bodies. Bottom
right asterisk: fused ribs 8 and 11. Arrow: hypoplastic 12th rib bilaterally. Scoliosis is better
visualised. (C) Computed tomography scan of the chest. Le asterisk: posterior bullae of the
lungs with interstitial and cystic lesions in the mid- and upper zones, features of pneumonia/
pneumonitis and possible pulmonary malformations. e large airways are normal. Right top
asterisk: absent ribs. Right bottom asterisk: spina bida.
AJTCCM VOL. 30 NO. 1 2024 29
CORRESPONDENCE: CASES
On admission the baby had signs of severe pneumonia and sepsis, and
both hypoxia and respiratory acidosis were noted on blood gas analysis.
Sputum culture was positive for multidrug-resistant Enterobacter
aerogenes. Blood culture was negative. A chest radiograph, a 3D
computed tomography (CT) chest scan and a contrast-enhanced
CT chest scan were done (Fig. 1). Abdominal-pelvic and brain CT
scans were normal, and no visceral or skeletal anomalies were noted.
She developed new-onset sepsis 2 weeks later. Enterococcus faecium
was cultured in a urine specimen, and despite intensive care support
including mechanical ventilation she progressed to respiratory failure,
eventually dying aer 3 weeks in hospital.
Our case may be classied as STD because of the phenotype, the
severity of defects and the baby’s death in early infancy, but genetic
testing was not available to conrm it.[1,3] STD and SCDO subtype 2
are caused by pathogenic variants of the mesoderm posterior basic
helix-loop-helix transcription factor 2 (MESP2) gene, but SCDO
has a less severe phenotype. MESP2 is part of the notch signalling
pathway responsible for somite anterior boundary formation of the
developing vertebrae during embryogenesis. STD is oen fatal in
the rst year of life because of thoracic restriction of lung growth,
respiratory mechanics and airway clearance defects[1,3] cause
respiratory insuciency, progressing to failure and recurrent chest
infections. Martínez-Frías et al.[4] reported that 70% of their cases
were fatal early in life.
In view of the genetic basis of SDVs, it is important to establish
a genetic cause, as this facilitates family planning. Seven genotypes
have been identified that affect the notch signalling pathway.[8]
Genetic testing is now available in our country, but only in a few
private centres such as our institution, and it takes several weeks to
get results. e tests are costly at USD300 - 2 000, and as they are
self-nanced, many families are unable to aord them.
For patients with severe defects who survive the neonatal
period, implantation of a vertical expandable prosthetic titanium
rib (VEPTR) is possible in specialised centres from 6 months of
age onwards.[6,9] Approved for use to correct and control spine
and thoracic abnormalities, the VEPTR increases the thoracic
volume to allow lung growth and is adjusted as the patient grows.
It has also been shown to reduce the need for respiratory support,
thus enhancing prognosis and quality of life. VEPTRs should be
implanted before 2 years of age, as this is the period of maximal
alveolar growth.[9]
In conclusion, to improve the outcome of these thoracic disorders
in our region, we need to enhance ultrasound screening during
the antenatal period, and provide appropriate follow-up during the
postnatal period and early neonatal care to support respiration and
prevent infections. Pre-implantation and prenatal genetic testing
is available for high-risk families. VEPTRs have been shown to
improve prognosis, especially when implanted in early childhood.
A Irungu, MB ChB, MMed (Paeds & Child Health), FS Paed Pulm
Paediatric Pulmonology Unit, Division of Paediatrics, Gertrude’s
Children’s Hospital, Nairobi, Kenya
anne.m.irungu@gmail.com
R Patil, MBBS, MD, FS Paed Int Care
Critical Care Unit, Division of Paediatrics, Gertrude’s Children’s
Hospital, Nairobi, Kenya
M N Awori, MB ChB, MMed (Gen Surg), FCS, CTS (ECSA)
Cardiothoracic Unit, Division of Surgery, Gertrude’s Children’s
Hospital, Nairobi, Kenya; Lecturer, oracic and Cardiovascular
Surgery Unit, Department of Surgery, Faculty of Medicine,
University of Nairobi, Kenya
A Metto, MB ChB
Critical Care Unit, Division of Paediatrics, Gertrude’s Children’s
Hospital, Nairobi, Kenya
1. Berdon WE, Lampl BS, Cornier AS, et al. Clinical and radiological distinction
between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal
dysostosis (Jarcho-Levin syndrome). Pediatr Radiol 2011;41(3):384-388. https://doi.
org/10.1007/s00247-010-1928-8
2. Lefebvre M, Dieux-Coeslier A, Baujat G, et al. Diagnostic strategy in segmentation
defect of the vertebrae: A retrospective study of 73 patients. J Med Genet
2018;55(6):422-429. https://doi.org/10.1136/jmedgenet-2017-104939
3. Turnpenny PD, Sloman M, Dunwoodie S; ICVS (International Consortium for
Vertebral Anomalies and Scoliosis). Spondylocostal dysostosis, autosomal recessive.
25 August 2009 (updated 21 December 2017). In: Adam MP, Mirzaa GM, Pagon RA,
et al., eds. GeneReviews. Seattle: University of Washington, 1993-2023. https://www.
ncbi.nlm.nih.gov/books/NBK8828 (accessed 19 September 2022).
4. Martínez-Frías ML, Bermejo E, Paisán L, et al. Severe spondylocostal dysostosis
associated with other congenital anomalies: A clinical/epidemiologic analysis and
description of ten cases from the Spanish registry. Am J Med Genet 1994;51(3):203-
212. https://doi.org/10.1002/ajmg.1320510306
5. Odéhouri-Koudou TH, Yaokreh JB, Tembély S, et al. Sporadic occurrence of Jarcho-
Levin syndrome in an Ivorian newborn. Case Rep Orthop 2013;2013:129625.
https://doi.org./10.1155/2013/129625
6. Beighton P, Horan FT. Spondylocostal dysostosis in South African sisters. Clin
Genet 1981;19(1):23-25. https://doi.org/10.1111/j.1399-0004.1981.tb00662.x
7. Hull AD, James G, Pretorius DH. Detection of Jarcho-Levin syndrome at 12 weeks’
gestation by nuchal translucency screening and three-dimensional ultrasound.
Prenat Diagn 2001;21(5):390-394. https://doi.org/10.1002/pd.67
8. Umair M, Younus M, Shafiq S, Nayab A, Alfadhel M. Clinical genetics of
spondylocostal dysostosis: A mini review. Front Genet 2022;13:996364. https://doi.
org/10.3389/fgene.2022.996364
9. Karlin JG, Roth MK, Patil V, et al. Management of thoracic insuciency syndrome
in patients with Jarcho-Levin syndrome using VEPTRs (vertical expandable
prosthetic titanium ribs). J Bone Joint Surg Am 2014;96(21):e181. https://doi.
org/10.2106/JBJS.M.00185
Submitted 23 April 2023. Accepted 8 January 2024. Published 4 April 2024.
Afr J Thoracic Crit Care Med 2024;30(1):e984. https://doi.
org/10.7196/AJTCCM.2024.v30i1.984
