Genetic disorder characterized by multiple skeletal
(and other) anomalies and death either in utero or in the early neonatal
period as a result of respiratory failure.
Beemer-Langer Type Short Rib-Polydactyly Syndrome; Short
Rib-Polydactyly Syndrome Type IV; SRPS Type IV; Polydactyly with Neonatal
Chondrodystrophy, Type IV.
Approximately 30 cases have been described.
Autosomal recessive. The syndrome has been
linked to a variety of genetic mutations, including an inversion on
chromosome 17q21 or 17q23, an unbalanced translocation involving chromosome
6 and 22, and a balanced pericentric inversion on chromosome 4. Most
karyotypes, however, are normal.
Made by the clinical picture and family history.
Short ribs with pulmonary hypoplasia are
associated with a variety of other malformations. Short tubular bones,
perinatal hydrops, and macrocephaly are present in almost all children.
Midline cleft with or without cleft palate, congenital heart disease, central nervous system
malformations, and gastrointestinal and urogenital abnormalities are other
frequently encountered features. The syndrome is generally lethal; most
children die in utero or during early infancy as a result of respiratory
insufficiency secondary to pulmonary hypoplasia.
Because of the dismal prognosis,
these patients are unlikely candidates for anesthesia. If interventions are
indicated, the full extent of craniofacial and cardiac malformations must be
Anesthetic implications include
potentially difficult airway management, oxygenation failure on the
ventilator, and severe difficulties weaning from the ventilator.
Considerations regarding the cardiovascular pathophysiology depend on the
underlying cardiac defect. Assess renal function (creatinine, urea).
Depending on the cardiac state,
agents causing myocardial depression or resulting in changes of systemic
and/or pulmonary vascular resistance should be used cautiously. Avoid drugs
with predominantly renal elimination (or adjust the dose) in the presence of
decreased renal function. Subacute bacterial endocarditis prophylaxis may be required.
Although polydactyly is unusual
in Beemer-Langer syndrome, it is considered part of the four known Short-Rib Polydactyly Syndromes, which all are transmitted in an
autosomal recessive pattern, and all represent extreme and lethal forms of
chondrodysplasia and dwarfism. Clearly separating the four different types
from each other can be difficult or impossible. Saldino-Noonan Syndrome (Synonyms:
Short Rib-Polydactyly Syndrome Type 1; Polydactyly With Neonatal Chondrodystrophy, Type I) Majewski Syndrome (Synonyms:
Short Rib-Polydactyly Syndrome Type 2; Polydactyly With Neonatal Chondrodystrophy, Type II) Verma-Naumoff Syndrome (Synonyms:
Short Rib-Polydactyly Syndrome Type 3; Polydactyly With Neonatal Chondrodystrophy, Type III)
Chen H, Mirkin D, Yang S: De novo 17q paracentric inversion mosaicism in
a patient with Beemer-Langer type short rib-polydactyly syndrome with
special consideration of short rib polydactyly syndromes. Am J Med Genet
Myong N-H, Park J-W, Chi JG: Short-rib polydactyly syndrome, Beemer-Langer
type, with bilateral huge polycystic renal dysplasia. J Korean Med Sci
Vujanic GM, Hunt NCA: New case of Beemer-Langer syndrome. Pediatr Dev Pathol 3:281, 2000....