Short-Rib Polys..

The Short-Rib Polysyndactyly syndrome is a descriptive category for a group of lethal skeletal dysplasias characterized by a hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities.

The Short-Rib Polysyndactyly Syndrome is subdivided into four types: classified as follow:

Type I: Saldino-Noonan Syndrome (Polysyndactyly with Neonatal Chondrodystrophy type I)

Type II: Majewski Syndrome (Polysyndactyly with Neonatal Chondrodystrophy type II)

Type III: Verma-Naumoff Syndrome (Polysyndactyly with Neonatal Chondrodystrophy type III)

Type IV:Beemer-Langer Syndrome (Short Rib Syndrome, Beemer type).

All variants are believed to be inherited as autosomal recessive pattern. However, because of the frequent phenotypic overlap, there is controversy as to whether the variants are because of variable expression or genetic heterogenity.

Type I or Saldino-Noonan Syndrome is a lethal condition (dwarfism) in the newborn period. The infant has a hydropic appearance, postaxial polydactyly, severely shortened and flipper-like limbs and striking metaphyseal dysplasia of tubular bones. Severe micromelia is often noted. The cardiac system often presents a transposition of the great vessels. Ossification is defective in the calvaria and vertebrae. It also affects the pelvis and bones of the hand and feet. The pelvis resembles that in the Ellis-van Creveld Syndrome and the Asphyxiating Thoracic Dystrophy Syndrome. The visceral abnormalities involve gastrointestinal (GI) atresia, genitourinary atresia, and polycystic kidneys.

Type II or Majewski Syndrome is a lethal disease in the perinatal period. It is characterized by the presence of median cleft-lip and palate, hypoplastic epiglottis, malformed larynx, and pulmonary hypoplasia. The presence of short ribs and GI atresia may mislead the diagnosis and often it is suggested to be a type I variant. However, the genitourinary system is largely affected with polycystic kidneys, ambiguous genitalia, and glomerular and renal tubular cysts. Neurologically, the presence of a hypoplastic cerebellar vermis and pachygyria is classical to this entity.

Type III or Verma-Naumoff Syndrome: The most important distinguishing features of this type are to be found in the skull: the cranial base is short, the forehead is bulging, the nasal bridge is depressed and the occiput is flat. Another difference resides in the radiologic appearance of the long tubular bones, which show a distinct corticomedullary demarcation, somewhat widened metaphyses and marked longitudinal spurs. The neonatal period is often associated with asphyxiating episodes because of the narrow thorax and very short ribs. In comparison with type II, the genitourinary system does not show as frequent abnormalities.

Type IV or Beemer Langer Syndrome is characterized by short ribs with pulmonary hypoplasia, associated with a variety of other visceral malformations. Short tubular bones, perinatal hydrops and macrocephaly are present in virtually all children. Midline cleft with or without cleft palate, congenital heart disease, central nervous system malformations, GI and urogenital abnormalities are other frequently encountered features. The syndrome is generally lethal with most children dying in utero or during early infancy ...

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

## Subscription Options

### AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more