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A disorder combining anomalies of the face, limbs, and multiple internal organs. Stillbirth occurs frequently, or death commonly occurs shortly after birth.

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

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Seven cases have been described (6 females, 1 male). Autosomal recessive inheritance with parental consanguinity is a significant risk factor.

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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.

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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.

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Grant Syndrome: A form of osteogenesis imperfecta with persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae, and camptomelia.

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 73:419, 1997.  [PubMed: 9415469]
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, 1999.

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