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Short Rib-Polydactyly Syndrome Type Beemer-Langer

Beemer Langer Syndrome


Presentation

  • We present premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism.[ncbi.nlm.nih.gov]
  • Weiner, Bernard Gonik, Caroline Crowther, and Stephen Robson present an evidence-based approach to the available management options, equipping you with the most appropriate strategy for each patient.[books.google.com]
  • Short rib-polydactyly syndrome in twins: Beemer-Langer type with poly dactyly Elçio&gcaron;lu, Nursel; Karatekin, Güner; Sezgin, Betül; Nuho&gcaron;lu, Asiye; Cenani, Asim 1996-09-01 00:00:00 We present premature female twin fetuses with concordant extremely[deepdyve.com]
  • Most of the mani- festations of Beemer-Langer syndrome were present in the twin fetuses described by Hingorani et al. [1991].[docslide.net]
Bowing of Tibia
  • […] radiudulna Tibia longer than fibula Polydactyly Small scapula Small ilia GI malformations CNS malformations Cardiac malformations Renal malformations Lung malformations Abnormal bone histology 313 616 5 I6 415 215 215 115 315 5 I5 515 616 717 818 617[docslide.net]
  • Postmortem radiographs showing highly placed clavicles, small scapulae, short ribs, poor os- sification of vertebral bodies, small ilia, short appendicular bones with bowed radii and ulnae, anterior bowing of tibiae, and non-osseous postaxial polydactyly[documents.tips]
Long Arm
  • Young et al. [1992] reported the second case of campomelic dysplasia in which a re- arrangement involving the long arm of chromosome 17 [a de nouo t(2;17) (q35;q23-24)] was present.[documents.tips]
Hydrops Fetalis
  • Preferred Name Beemer-Langer syndrome Synonyms type IV short rib polydactyly syndrome (disorder) Definitions A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short[bioportal.bioontology.org]
  • […] polysyndactyly Face Partial harelip (associated with natal teeth) Flat face Visceral anomalies Renal and liver failure starting in infancy 50%: heart defect - ASD (primum type) Epispadia Dandy–Walker malformation Urogenital anomalies (ambiguous genitalia) Hydrops[fetalultrasound.com]
  • Affiliated tissues include bone, brain and kidney, and related phenotypes are macrocephaly and hypertelorism Disease Ontology : 12 A syndrome that results in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities,[malacards.org]
  • Passarge E (1983): Letter to the editor: Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly. Am J Med Genet 14:403-405. Sillence DO (1980): Invited editorial comment: Non-Majewski short rib-polydactyly syndrome.[dokumen.tips]
  • Synopsis hydrops fetalis ascites craniofacial anomalies facial dysmorphism ( 1867273 ) macrocephaly ( 8946117, 1867273 ) median cleft lip/ cleft palate ( 8946117 ) accessory frenulum anophthalmy coarsening of facial features ( 14768808 ) low-set ears[humpath.com]
Widely Spaced Nipples
  • nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Showing of 57 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.[rarediseases.info.nih.gov]
Median Cleft Lip
  • Normal chromosomes Hydrops Macrocephaly Flat face Median cleft lip Cleft palate Abnormal grooved palate Oral frenuls, milia Abnormal ears Flat, broad nasal bridge Short nose Narrow chest Short limbs Short horizontal ribs High clavicles Short long bones[docslide.net]
  • cleft lip and palate ; Narrow chest ; Natal tooth ; Neonatal death ; Omphalocele ; Patent ductus arteriosus ; Patent foramen ovale ; Periportal fibrosis ; Polyhydramnios ; Posteriorly rotated ears ; Protuberant abdomen ; Pulmonary hypoplasia ; Renal[mousephenotype.org]
  • Synopsis hydrops fetalis ascites craniofacial anomalies facial dysmorphism ( 1867273 ) macrocephaly ( 8946117, 1867273 ) median cleft lip/ cleft palate ( 8946117 ) accessory frenulum anophthalmy coarsening of facial features ( 14768808 ) low-set ears[humpath.com]
  • cleft lip and palate Central cleft lip and palate Midline cleft lip/palate [ more ] 0008501 Narrow chest Low chest circumference Narrow shoulders [ more ] 0000774 Natal tooth Born with teeth Teeth present at birth [ more ] 0000695 Neonatal death Neonatal[rarediseases.info.nih.gov]
Short Neck
  • neck ; Short palm ; Short ribs ; Short thorax ; Short toe ; Splenomegaly ; Thoracic dysplasia ; Ventricular septal defect ; Wide intermamillary distance Associated Genes - Mouse Orthologs - Source OMIM:269860 (names, synonyms, disease associated genes[mousephenotype.org]
  • neck Decreased length of neck 0000470 Short palm 0004279 Short ribs 0000773 Short thorax Shorter than typical length between neck and abdomen 0010306 Short toe Short toes Stubby toes [ more ] 0001831 Splenomegaly Increased spleen size 0001744 Thoracic[rarediseases.info.nih.gov]
  • neck Intrauterine growth retardation Polyhydramnios Retrognathia Hydronephrosis Hamartoma of tongue Hamartoma Nephrotic syndrome Postaxial polydactyly Oligohydramnios Talipes Intellectual disability Short ribs Bile duct proliferation Anencephaly Cleft[mendelian.co]
Broad Nasal Bridge
  • Normal chromosomes Hydrops Macrocephaly Flat face Median cleft lip Cleft palate Abnormal grooved palate Oral frenuls, milia Abnormal ears Flat, broad nasal bridge Short nose Narrow chest Short limbs Short horizontal ribs High clavicles Short long bones[docslide.net]
  • nasal bridge ( 1867273 ) median cleft lip ( 1867273 ) median alveolar ridge ( 1867273 ) grooved palate ( 1867273 ) accessory frenula ( 1867273 ) small tongue ( 1867273 ) hypertelorism ( 2325097 ) median pseudo-cleft of the upper lip and cleft palate[humpath.com]

Workup

  • Careful physical and genetic workups are, therefore, necessary. As the delineation of syndromes continues, the classification of this complex condition will evolve.[medlink.com]

Treatment

  • Prepare for clinical challenges and save time in addressing them thanks to expert advice on treatment options from international contributors.[books.google.com]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • These include: congenital cardiac anomalies congenital renal anomalies Treatment and prognosis SRPSs are lethal anomalies and management is often supportive. skeletal dysplasias lethal skeletal dysplasias Jeune syndrome : occasionally characterized as[radiopaedia.org]
  • Treatment and management There is no treatment or cure for the SRP syndromes. The abnormal prenatal bone development is irreversible. The chest is usually too small to allow for lung growth after birth.[encyclopedia.com]

Prognosis

  • These include: congenital cardiac anomalies congenital renal anomalies Treatment and prognosis SRPSs are lethal anomalies and management is often supportive. skeletal dysplasias lethal skeletal dysplasias Jeune syndrome : occasionally characterized as[radiopaedia.org]
  • Due to the poor prognosis, extreme measures to prolong life are rarely taken. Prognosis The prognosis for infants born with SRP syndromes is quite poor. These babies usually die within hours or days of birth due to underdeveloped lungs.[encyclopedia.com]
  • One study of 13 patients found that in most study subjects, the condition became less pronounced as patients aged (4), and that prognosis improved.[forgottendiseases.org]

Etiology

  • Maraia R, Saal HM, Wangsa D (1991): A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. Clin Genet 39:401408.[documents.tips]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]

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