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At a glance

A disorder combining anomalies of the face, limbs, and multiple internal organs. Stillbirth or death shortly after birth is a constant finding.

Synonyms

Camptomelia Cumming Type; Cervical Lymphocele with Long Bowed Bones Syndrome.

Incidence

Seven cases have been described (6 females, 1 male).

Genetic inheritance

Autosomal recessive inheritance with parental consanguinity being a significant risk factor.

Diagnosis

Based on the clinical findings.

Clinical aspects

Craniofacial anomalies may include cloverleaf skull, macro-, dolicho- or scaphocephaly, arrhinencephaly (in one case), marked facial (and generalized) edema, profound deformation of the face with dysplastic and low-set ears, microphthalmos, flat nasal bridge, midface hypoplasia, micrognathia, cleft palate, cervical cystic hygroma or lymphocele, redundant cervical subcutaneous tissue, and edema. Skeletal anomalies may include tetramelic and mesomelic camptomelia (bowed diaphyses of the long bones), micromelia, hypoplasia or aplasia of the fibulae, talipes equinovarus, and brachydactyly (in some cases without detectable phalanges). Syndactyly may be present. The vertebral bodies are flat and may have coronal clefts. Pelvic anomalies include a tall ilium that can be narrow or wide, poorly ossified ischium and pubis, and hypoplastic acetabular roof. The chest is small, bell-shaped and narrow with hypoplastic and/or abnormally lobulated (bilobed with bronchial isomerism) lungs. Cardiac defects have been reported and included dextrocardia, total anomalous pulmonary venous drainage, double-outlet right ventricle, ventricular septal defect, left-sided superior vena cava, and coarctation of the aorta. The abdomen may be distended by ascites. Polycystic disease can affect the kidneys, but also the enlarged and/or fibrotic liver, and the pancreas. Other anomalies may include polysplenia, anatomical anomalies of the pancreas (annular pancreas, marked parenchymal fibrosis with scant acinar components, and proliferation of enlarged ducts), ectopic thyroid tissue, shortened small and large intestine, atresia of the cecum, ectopic or undescended testes, and absence of uterus and Fallopian tubes. Lymph edema may be generalized, but is most pronounced on head, face, and neck. Some researchers consider heterotaxia to be part of this syndrome.

Precautions before anesthesia

It is very unlikely that these patients come to the operating room as most of them are either stillborn or die within minutes to hours after birth. These patients would be of serious concern to the anesthesiologist. In some cases, the facial structures could not be well identified. Besides airway assessment, a thorough review of the organ systems would be required due to the multiorgan involvement. Cardiac anatomy and function should be determined clinically and an electro- and echocardiogram would be required. A chest x-ray should be obtained to get additional information about lung anomalies. Preoperative blood work should include a complete blood count, serum electrolytes, glucose, creatinine, urea, and liver function tests.

Anesthetic considerations

Airway management (including facemask ventilation) ...

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