1981
DOI: 10.1002/ajmg.1320100411
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Achondrogenesis: A review with special consideration of achondrogenesis type II (langer‐saldino)

Abstract: We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally. Radiographic and morphologic characteristics identified the Langer-Saldino form of achondrogenesis (type II). Review of type II achondrogenesis documented distinctive clinical and anthropometric manifestations (fewer stillbirths, longer survival time and gestation period, larger size of the baby, longer limbs, and characteristic craniofacial features) as compared with type I achondro… Show more

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Cited by 34 publications
(12 citation statements)
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References 31 publications
(9 reference statements)
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“…Prognostication and management are based largely on case series suggesting that nearly all affected infants die shortly after birth. [6][7][8][9][10][11][12][13][14][15][16] However, reports of occasional long-term survivors [21][22][23][24] and of decreased mortality with intensive care 25,26 raise questions about the use of the term 'lethal' in this context. Especially, as parents access available knowledge, policies that limit medical treatment are being questioned.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Prognostication and management are based largely on case series suggesting that nearly all affected infants die shortly after birth. [6][7][8][9][10][11][12][13][14][15][16] However, reports of occasional long-term survivors [21][22][23][24] and of decreased mortality with intensive care 25,26 raise questions about the use of the term 'lethal' in this context. Especially, as parents access available knowledge, policies that limit medical treatment are being questioned.…”
Section: Discussionmentioning
confidence: 99%
“…First, we elicited the expert opinion of knowledgeable clinicians (three perinatologists, three neonatologists, one geneticist and two genetics counselors) who reviewed International Classification of Diseases, Ninth Revision codes (ICD-9 codes 740 to 759) 5 and identified the congenital diagnoses they considered lethal. We then performed MEDLINE and Google searches of the diagnoses listed by two-thirds or more of the clinicians, reviewed articles, [6][7][8][9][10][11][12][13][14][15][16] reference texts 17 and websites, 18,19 and retained those diagnoses that were consistently reported to be associated with death before a year of life in nearly all (X85%, when statistics were available) cases. We excluded conjoined twins because of the confounding effect of one infant's condition on the other.…”
Section: Methodsmentioning
confidence: 99%
“…Secondary cartilages (symphyseal, angular and condylar cartilages) form prenatally and eventually ossify by endochondral ossification during post-natal growth, serving as growth centers (12). The central role of cartilages in mandibular development and growth is exemplified by the mandibular phenotype observed in several chondrodysplasias where mutations in genes involved in chondrocyte function, such as Collagen II (responsible for Achondrogenesis type II), Sox9 (Campomelic dysplasia) or PTHrP (Jansen type of metaphyseal chondrodysplasia) result in abnormal mandibular shape, size or position (14–16). …”
Section: Introductionmentioning
confidence: 99%
“…Osteosclerosis with ichthyosis appears to be a different disease [87]. Patients with type II achondrogenesis lack ossification of vertebral, sacral, and pubic bones and have characteristic craniofacial features including prominent forehead, flat face, and micrognathia [88]. Causative de novo mutations are found in the COL2A1 gene [89].…”
Section: Familial Disorders With Pathologic Fractures and Facial Bonementioning
confidence: 98%