atelosteogenesis type I

Clinical features include{{cite journal | last1=Temple | first1=K | last2=Hall | first2=C A | last3=Chitty | first3=L | last4=Baraitser | first4=M | title=A case of atelosteogenesis. | journal=Journal of Medical Genetics | publisher=BMJ | volume=27 | issue=3 | date=1990-03-01 | issn=1468-6244 | doi=10.1136/jmg.27.3.194 | pages=194–197| pmid=2325095 | pmc=1017004 }}

• Abnormal facies
• Prominent forehead
• Hypertelorism
• Depressed nasal bridge with a grooved tip
• Micrognathia
• Cleft palate
• Severe short limbed dwarfism
• Joint dislocations (hip, knee and elbow joints)
• Club feet
• Cardiorespiratory failure

Cardiorespiratory failure is due to pulmonary hypoplasia or tracheobronchial hypoplasia.{{cite journal | last1=Wessels | first1=Annasu | last2=Wainwright | first2=Helen C. | last3=Beighton | first3=Peter | title=Atelosteogenesis Type I: Autopsy Findings | journal=Pediatric and Developmental Pathology | publisher=SAGE Publications | volume=14 | issue=6 | year=2011 | issn=1093-5266 | doi=10.2350/11-01-0969-cr.1 | pages=496–500| pmid=21985323 }}

This condition is caused by mutations in the filamin B (FLNB) gene.{{cite journal | last1=Farrington-Rock | first1=Claire | last2=Firestein | first2=Marc H. | last3=Bicknell | first3=Louise S. | last4=Superti-Furga | first4=Andrea | last5=Bacino | first5=Carlos A. | last6=Cormier-Daire | first6=Valerie | last7=Le Merrer | first7=Martine | last8=Baumann | first8=Clarisse | last9=Roume | first9=Joelle | last10=Rump | first10=Patrick | last11=Verheij | first11=Joke B.G.M. | last12=Sweeney | first12=Elizabeth | last13=Rimoin | first13=David L. | last14=Lachman | first14=Ralph S. | last15=Robertson | first15=Stephen P. | last16=Cohn | first16=Daniel H. | last17=Krakow | first17=Deborah | title=Mutations in two regions ofFLNBresult in atelosteogenesis I and III | journal=Human Mutation | publisher=Hindawi Limited | volume=27 | issue=7 | year=2006 | issn=1059-7794 | doi=10.1002/humu.20348 | pages=705–710| pmid=16752402 }}{{cite journal | last1=Li | first1=Ben C. | last2=Hogue | first2=Jacob | last3=Eilers | first3=Meg | last4=Mehrotra | first4=Pavni | last5=Hyland | first5=James | last6=Holm | first6=Tara | last7=Prosen | first7=Tracy | last8=Slavotinek | first8=Anne M. | title=Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue | journal=American Journal of Medical Genetics Part A | volume=161 | issue=3 | date=2013 | issn=1552-4825 | doi=10.1002/ajmg.a.35792 | pages=619–625| pmid=23401428 }}{{cite journal | last1=Jeon | first1=Ga Won | last2=Lee | first2=Mi-Na | last3=Jung | first3=Ji Mi | last4=Hong | first4=Seong Yeon | last5=Kim | first5=Young Nam | last6=Sin | first6=Jong Beom | last7=Ki | first7=Chang-Seok | title=Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing | journal=Annals of Laboratory Medicine | volume=34 | issue=2 | date=2014-03-01 | issn=2234-3806 | pmid=24624349 | pmc=3948826 | doi=10.3343/alm.2014.34.2.134 | pages=134–138}}

This condition is evident at birth and may be diagnosed antenatally with ultrasound or magnetic resonance imaging. The infants may be still born. Those that are live born do not survive long.{{cite journal |last1=Stevenson |first1=R.E |last2=Wilkes |first2=G |title=Atelosteogenesis with survival beyond the neonatal period |journal=Proc. Greenwood Genet. Center 2 |date=1983 |pages=32–38}}

Radiological findings include{{cite journal | last1=Ueno | first1=Kazunori | last2=Tanaka | first2=Mamoru | last3=Miyakoshi | first3=Kei | last4=Zhao | first4=Chen | last5=Shinmoto | first5=Hiroshi | last6=Nishimura | first6=Gen | last7=Yoshimura | first7=Yasunori | title=Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation | journal=Prenatal Diagnosis | publisher=Wiley | volume=22 | issue=12 | date=2002-10-24 | issn=0197-3851 | doi=10.1002/pd.470 | pages=1071–1075| pmid=12454961 }}

• Severe platyspondyly
• Distally tapered, shortened, incomplete or absent humeri and femurs
• Shortened or bowed radii, ulnas and tibias
• Hypoplastic pelvis and fibulas
• Deficient ossification of the metacarpals, middle and proximal phalanges

This includes{{cite journal | last1=Nishimurae | first1=Gen | last2=Horiuchi | first2=Takashi | last3=Kim | first3=Ok H. | last4=Sasamoto | first4=Yuka | title=Atypical skeletal changes in otopalatodigital syndrome type II: Phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome | journal=American Journal of Medical Genetics | volume=73 | issue=2 | date=1997-12-12 | doi=10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W | pages=132–138| pmid=9409862 }}

• Achondroplasia
• Achondrogenesis
• Atelosteogenesis III
• Boomerang dysplasia
• Campomelic dysplasia
• Ellis–Van Creveld syndrome
• Hypophosphatasia
• Melnick Needles syndrome
• Metatropic dysplasia
• Osteogenesis imperfecta
• Roberts syndrome
• Short-rib polydactyly syndrome
• Thanatophoric dysplasia

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This condition was first described by Maroteaux et al. in 1982.{{cite journal | last1=Maroteaux | first1=P. | last2=Spranger | first2=J. | last3=Stanescu | first3=V. | last4=Le Marec | first4=B. | last5=Pfeiffer | first5=R. A. | last6=Beighton | first6=P. | last7=Mattei | first7=J. F. | last8=Opitz | first8=John M. | title=Atelosteogenesis | journal=American Journal of Medical Genetics | publisher=Wiley | volume=13 | issue=1 | year=1982 | issn=0148-7299 | doi=10.1002/ajmg.1320130106 | pages=15–25| pmid=7137218 }}

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Category:Genetic diseases and disorders

Category:Rare diseases