Spine malformation complex in 3 diverse syndromic entities: Case reports

Medicine (Baltimore). 2016 Dec;95(50):e5505. doi: 10.1097/MD.0000000000005505.


Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity.

Patients concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes.

Diagnoses: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A).

Interventions: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively.

Outcomes: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex.

Lesons: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and

MeSH terms

  • Campomelic Dysplasia / diagnostic imaging*
  • Campomelic Dysplasia / surgery
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Imaging, Three-Dimensional*
  • Infant, Newborn
  • Male
  • Mucopolysaccharidosis IV / diagnostic imaging*
  • Mucopolysaccharidosis IV / surgery
  • Musculoskeletal Abnormalities / diagnosis
  • Musculoskeletal Abnormalities / surgery
  • Osteochondrodysplasias / diagnostic imaging*
  • Osteochondrodysplasias / surgery
  • Rare Diseases
  • Sampling Studies
  • Spine / abnormalities*
  • Tomography, X-Ray Computed / methods*

Supplementary concepts

  • Larsen Syndrome