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short rib-polydactyly syndrome type 4

Friday 24 February 2006

Beemer-Langer syndrome is a relatively recently described form of lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. Neonatal lethal autosomal recessive disease.

The short rib (polydactyly) syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically by short limbs, median cleft upper lip and palate, narrow thorax, and protuberant abdomen, and radiologically by short ribs, short and bowed long bones, and mild platyspondyly. The differentiation with the short rib syndrome Majewski type relies mainly on the radiological appearance of the tibia.

Short rib-polydactyly syndromes (SRPSs) are a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs.

Synopsis

- hydrops fetalis

- craniofacial anomalies

- laryngeal anomalies

- osteochondrodysplasia

  • short ribs
  • narrow chest
  • mesomelic shortening of limbs with particularly short and broad tibiae
  • bowed limbs (limb bowing)
  • narrow thorax with respiratory insufficiency and pulmonary hypoplasia
  • shortened limbs
  • short horizontal ribs
  • curved short tubular limb bones
  • small ilia
  • scapula
  • mild vertebral abnormality
  • abnormal enchondral ossification with irregular and retarded hypertrophic zone
  • short proximal parts of upper limbs (14768808)
  • bilateral postaxial polydactyly of hands (14768808)
  • bifid big toe with zygodactyly (14768808)
  • occipital horn accompanied (14768808)
  • prominent external occipital protuberance (14768808)
  • short iliac wings (14768808)
  • hypoplastic pubic and ischial rami (14768808)
  • shallow acetabula (14768808)
  • trident shaped acetabula (14768808)
  • wide tubular bones with rounded metaphyses (14768808)

- polydactyly (+/-)

- ambiguous genitalia (14768808)
- choroid plexus cyst (14768808)
- coarctation of aorta (14768808)
- transverse palmar crease
- short intestines (10742417, 2070548)
- absent internal genitalia
- intrahepatic bile duct cysts
- periportal hepatic fibrosis
- pancreatic cysts (9610623)
- intracranial malformations
- single umbilical artery
- pyloric stenosis (2070548)
- polydactyly of the upper limbs (2325097)
- severely hypoplastic external genitalia with anorchidism (2325097)
- anal atresia(2325097)
- severe congenital heart defect (2325097)
- renal agenesis (2325097)
- pancreatic cysts (9610623, 8488867)
- dysplasia of pancreatic Langerhans cells (2070548)
- hepatic fibrosis (9610623)
- intrahepatic bile duct cysts with periportal fibrosis (8488867)
- left persistent superior vena cava (9610623)
- absent internal genitalia (8488867)
- atrophic optic chiasm (8488867)
- absent optic nerves (8488867)
- single left anterior cerebral artery (8488867)
- polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami (8488867)

- multicytsic renal dysplasia (MRD)

- cerebral anomalies (8209908)

- milia
- severe rib shortness (short ribs)
- severe limb shortness (micromelia)
- brachydactyly
- talipes equinovarus
- Dandy-Walker malformation
- accessory spleen
- unfixed mesentery
- ectopic pancreas
- renal cysts

Cytogenetic anomalies

- de novo 17q paracentric inversion mosaicism (17q21 - 17q23) (7856642)

See also

- short rib-polydactyly syndromesa
- short limbs

References

- Kovács N, Sárkány I, Mohay G, Adamovich K, Ertl T, Kosztolányi G, Kellermayer R.High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation.Am J Med Genet A. 2006 Dec 15;140(24):2816-8. No abstract available. PMID: 17058284

- Türkmen M, Temoçin K, Acar C, Levi E, Karaman C, Inan G, Elçioğlu N.Short rib-polydactyly syndrome: a case report.Turk J Pediatr. 2003 Oct-Dec;45(4):359-62. PMID: 14768808

- Vujanic GM, Hunt NC. New case of Beemer-Langer syndrome. Pediatr Dev Pathol. 2000 May-Jun;3(3):281-5. PMID: 10742417

- den Hollander NS, van der Harten HJ, Laudy JA, van de Weg P, Wladimiroff JW.Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases.Ultrasound Obstet Gynecol. 1998 Apr;11(4):298-302. PMID: 9618859

- Myong NH, Park JW, Chi JG.Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case.J Korean Med Sci. 1998 Apr;13(2):201-6. PMID: 9610623

- Elçioğlu N, Karatekin G, Sezgin B, Nuhoğlu A, Cenani A.Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.Clin Genet. 1996 Sep;50(3):159-63. PMID: 8946117

- 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 to the classification of short rib polydactyly syndromes. Am J Med Genet. 1994 Nov 1;53(2):165-71. Review. PMID: 7856642

- Tsai FJ, Tsai CH, Wang TR. Beemer-Langer type short rib-polydactyly syndrome: report of two cases.Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1994 Jul-Aug;35(4):331-4. PMID: 8085456

- Lurie IW.Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.Am J Med Genet. 1994 May 1;50(4):313-7. Review. PMID: 8209908

- Brenner RE, Nerlich A, Kirchner F, Mörike M, Terinde R, Teller WM.Proliferation and collagen biosynthesis of osteoblasts and chondrocytes in short rib syndrome type beemer.Am J Med Genet. 1993 Jun 15;46(5):584-91. PMID: 8322825

- LinksSharma AK, Phadke SR, Agarwal SS.Short rib (polydactyly) syndrome type IV: Beemer-Langer syndrome. Am J Med Genet. 1993 May 15;46(3):345-6. PMID: 8488883

- Cideciyan D, Rodriguez MM, Haun RL, Abdenour GE, Bruce JH.New findings in short rib syndrome.Am J Med Genet. 1993 May 15;46(3):255-9. PMID: 8488867

- Lungarotti MS, Martello C, Marinelli I, Falasca L. Lethal short rib syndrome of the Beemer type without polydactyly. Pediatr Radiol. 1993;23(4):325-6. PMID: 8414768

- Hennekam RC.Short rib syndrome—Beemer type in sibs.Am J Med Genet. 1991 Aug 1;40(2):230-3. Review. PMID: 1897578

- Yang SS, Roth JA, Langer LO Jr.Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome.Am J Med Genet. 1991 Jun 1;39(3):243-6. PMID: 1867272

- Lin AE, Doshi N, Flom L, Tenenholz B, Filkins KL.Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.Am J Med Genet. 1991 Jun 1;39(3):247-51. Review. PMID: 1867273

- Balci S, Erçal MD, Onol B, Cağlar M, Doğan A, Doğruel N.Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.Clin Genet. 1991 Apr;39(4):298-303. PMID: 2070548

- Meinecke P, Hayek H. Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. J Med Genet. 1990 Mar;27(3):200-2. PMID: 2325097

- Winter RM. A lethal short rib syndrome without polydactyly.J Med Genet. 1988 May;25(5):349-50. PMID: 3385743