A disorder combining anomalies of the face, limbs, and
multiple internal organs. Stillbirth occurs frequently, or death commonly
occurs shortly after birth.
Camptomelia Cumming type; Cervical Lymphocele with Long
Bowed Bones Syndrome.
Seven cases have been
described (6 females, 1 male). Autosomal recessive inheritance with parental consanguinity is a
significant risk factor.
The disorder may affect the head (cloverleaf skull,
dolichocephaly or scaphocephaly, marked deformation of the face, cervical cystic
hygroma or lymphocele, redundant subcutaneous tissue, severe cervical edema,
microphthalmos, cleft palate), the limbs (tetramelic camptomelia with bowed
diaphyses, micromelia, and brachydactyly talipes equinovarus), the heart
(dextrocardia, total anomalous pulmonary venous drainage, left-sided superior vena
cava, aortic arch anomalies), the lungs (hypoplasia and/or abnormal lobation in a
short, bell-shaped chest), the kidneys (polycystic kidney disease), the liver
(hepatomegaly, multiple liver cysts), and other organs (multiple pancreatic cysts
and anatomical anomalies, polysplenia, short bowel, ectopic or undescended testes,
absent uterus and Fallopion tubes). Lymph edema may be generalized. Some
researchers consider heterotaxia to be part of this syndrome.
It is unlikely that these patients come
to the operating room. Cardiac anatomy and function should be determined
preoperatively. Respiratory, renal, and hepatic function and blood glucose
levels should be assessed. Difficult airway management should be anticipated
secondary to the described head and neck features. Vascular access may be
difficult because of lymph edema. Medication selection may be altered in the
presence of concomitant hepatic and/or renal dysfunction.
Grant Syndrome: A form of osteogenesis imperfecta with persistent
wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae,
Bedeschi MF, Spaccini L, Rizzuti T, et al: Cumming syndrome with heterotaxia,
campomelia and absent uterus/fallopian tubes. Am J Med Genet A 132:329, 2005.
Ming JE, McDonald-McGinn DM, Markowitz RI: Heterotaxia in a fetus with
camptomelia, cervical lymphocele, polysplenia, and multicystic dysplastic
kidneys: Expanding the phenotype of Cumming syndrome. Am J Med Genet
Perez del Rio MJ, Fernandez-Toral J, Madrigal B, et al: A Two new cases of
Cumming syndrome confirming autosomal recessive inheritance. Am J Med Genet 82:340,