Geroderma osteodysplastica: Difference between revisions

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{{CMG}}; '''Associate Editor(s)-In-Chief:''' {{CZ}}, [[User:Raviteja Reddy Guddeti|Raviteja Guddeti, M.B.B.S.]][mailto:rgudetti@perfuse.org]  
{{CMG}}; '''Associate Editor(s)-In-Chief:'''[[User:Raviteja Reddy Guddeti|Raviteja Guddeti, M.B.B.S.]][mailto:ravitheja.g@gmail.com]  


==Overview==
==Overview==
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The terms "geroderma" or "gerodermia" can be used interchangeably with "osteodysplastica" or "osteodysplasticum", with the term "hereditaria" sometimes appearing at the end.<ref name=omim/><ref name=difd>{{cite journal |pmid=18348262 |year=2008 |month=Apr |author=Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S |title=Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman |volume=146A |issue=8 |pages=965–976 |doi=10.1002/ajmg.a.32143 |journal=Am J Med Genet. Part A}}</ref>
The terms "geroderma" or "gerodermia" can be used interchangeably with "osteodysplastica" or "osteodysplasticum", with the term "hereditaria" sometimes appearing at the end.<ref name=omim/><ref name=difd>{{cite journal |pmid=18348262 |year=2008 |month=Apr |author=Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S |title=Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman |volume=146A |issue=8 |pages=965–976 |doi=10.1002/ajmg.a.32143 |journal=Am J Med Genet. Part A}}</ref>


== Characteristics ==
==Clinical features==


Gerodermia osteodysplastica is characterized by symptoms and features which affect the [[connective tissue]]s, [[skin]] and [[skeletal system]].  
Gerodermia osteodysplastica is characterized by symptoms and features which affect the [[connective tissue]]s, [[skin]] and [[skeletal system]].  


These are: wrinkly, loose skin over the [[face]], [[abdomen]], and extremites ([[hand]]s, feet) on the [[dorsum (biology)|dorsal]] sides usually worsened by chronic [[joint]] laxity and [[Extension (kinesiology)#Hyperextension|hyperextensibility]];<ref name=gomain>{{cite journal |pmid=11424136 |year=2001 |month=Jul |author=Al-Gazali LI, Sztriha L, Skaff F, Haas D |title=Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? |volume=101 |issue=3 |pages=213–220 |issn=0148-7299 |journal=Am J Med Genet. |doi=10.1002/ajmg.1352}}</ref><ref name=gotwo>{{cite journal |pmid=18304158 |year=2008 |month=Jan |author=Nanda A, Alsaleh QA, Al-Sabah H, Marzouk EE, Salam AM, Nanda M, Anim JT |title=Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature |volume=25 |issue=1 |pages=66–71 |doi=10.1111/j.1525-1470.2007.00586.x |journal=Pediatr Dermatol.}}</ref> fragmented [[elastic fiber]]s of the skin that are reduced in number, with disorientation of [[collagen|collagen fibers]];<ref name=go06>{{cite journal |pmid=17014644 |year=2006 |month=Sep-Oct |author=Boente Mdel C, Asial RA, Winik BC |title=Geroderma osteodysplastica. Report of a new family |volume=23 |issue=5 |pages=467–472 |journal=Pediatr Dermatol. |doi=10.1111/j.1525-1470.2006.00285.x}}</ref> [[osteopenia]] and [[osteoporosis]], with associated [[bone fracture|fractures]];<ref name=difd/><ref name=gomain/> [[Zygomatic bone|malar]] [[hypoplasia]] (underdeveloped cheek bone),<ref name=gojaw>{{cite journal |author=Hunter AG |title=Is geroderma osteodysplastica underdiagnosed? |journal=J Med Genet. |volume=25 |issue=12 |pages=854–857 |year=1988 |month=Dec |pmid=3236370 |pmc=1051618 |doi=10.1136/jmg.25.12.854 }}</ref> [[maxilla]]ry hypoplasia (underdeveloped upper [[jaw]]),<ref name=difd/> [[human mandible|mandibular]] [[Prognathism#Mandibular prognathism (progenism)|prognathism]] (protrusion of the lower jaw and [[chin]]),<ref name=gojaw/><ref name=gosp>{{cite journal |author=Lustmann J, Nahlielio O, Harary D, Casap N, Neder A, Zlotogora J |title=Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity |journal=Am J Med Genet. |volume=47 |issue=2 |pages=261–267 |year=1993 |month=Aug |pmid=8213917 |doi=10.1002/ajmg.1320470224 }}</ref> bowed [[long bone]]s,<ref name=difd/> [[platyspondyly]] (flattened [[vertebral column|spine]]) related to [[vertebra]]l collapse;<ref name=difd/><ref name=go79>{{cite journal |pmid=474638 |year=1979 |month= |author=Lisker R, Hernández A, Martínez-Lavin M, Mutchinick O, Armas C, Reyes P, Robles-Gil J |title=Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review |volume=3 |issue=4 |pages=389–395 |doi=10.1002/ajmg.1320030410 |journal=Am J Med Genet.}}</ref> [[kyphoscoliosis]] ([[scoliosis]] with [[kyphosis]], or "hunch back"),<ref name=go79/> [[metaphysis|metaphyseal]] peg (an unusual outgrowth of metaphyseal tissue which protrudes into the [[epiphysis|epiphyseal]] region of the bone, near the [[knee]]);<ref name=gopeg>{{cite journal |author=Eich GF, Steinmann B, Hodler J, Exner GU, Giedion A |title=Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding? |journal=Am J Med Genet. |volume=63 |issue=1 |pages=62–67 |year=1996 |month=May |pmid=8723088 |doi=10.1002/(SICI)1096-8628(19960503)63:1<62::AID-AJMG13>3.0.CO;2-S}}</ref> and the overall physical effects and facial appearance of [[dwarfism]] with premature aging.<ref name=wd78/><ref name=gobed>{{cite journal |author=al-Torki NA, al-Awadi SA, Chindro-Heberie L, Sabry MA |title=Gerodermia osteodysplastica in a Bedouin sibship: further delineation of the syndrome |journal=Clin Dysmorphol. |volume=6 |issue=1 |pages=51–55 |year=1997 |month=Jan |pmid=9018419 |doi=10.1097/00019605-199701000-00009 }}</ref>
These are:  
* Wrinkly, loose skin over the [[face]], [[abdomen]], and extremites ([[hand]]s, feet) on the [[dorsum (biology)|dorsal]] sides usually worsened by chronic [[joint]] laxity and [[Extension (kinesiology)#Hyperextension|hyperextensibility]];<ref name=gomain>{{cite journal |pmid=11424136 |year=2001 |month=Jul |author=Al-Gazali LI, Sztriha L, Skaff F, Haas D |title=Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? |volume=101 |issue=3 |pages=213–220 |issn=0148-7299 |journal=Am J Med Genet. |doi=10.1002/ajmg.1352}}</ref><ref name=gotwo>{{cite journal |pmid=18304158 |year=2008 |month=Jan |author=Nanda A, Alsaleh QA, Al-Sabah H, Marzouk EE, Salam AM, Nanda M, Anim JT |title=Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature |volume=25 |issue=1 |pages=66–71 |doi=10.1111/j.1525-1470.2007.00586.x |journal=Pediatr Dermatol.}}</ref>  
* Fragmented [[elastic fiber]]s of the skin that are reduced in number, with disorientation of [[collagen|collagen fibers]];<ref name=go06>{{cite journal |pmid=17014644 |year=2006 |month=Sep-Oct |author=Boente Mdel C, Asial RA, Winik BC |title=Geroderma osteodysplastica. Report of a new family |volume=23 |issue=5 |pages=467–472 |journal=Pediatr Dermatol. |doi=10.1111/j.1525-1470.2006.00285.x}}</ref>
* [[Osteopenia]] and [[osteoporosis]], with associated [[bone fracture|fractures]];<ref name=difd/><ref name=gomain/>  
* [[Zygomatic bone|malar]] [[hypoplasia]] (underdeveloped cheek bone),<ref name=gojaw>{{cite journal |author=Hunter AG |title=Is geroderma osteodysplastica underdiagnosed? |journal=J Med Genet. |volume=25 |issue=12 |pages=854–857 |year=1988 |month=Dec |pmid=3236370 |pmc=1051618 |doi=10.1136/jmg.25.12.854 }}</ref>  
* [[Maxilla]]ry hypoplasia (underdeveloped upper [[jaw]]),<ref name=difd/>  
* [[Human mandible|mandibular]] [[Prognathism#Mandibular prognathism (progenism)|prognathism]] (protrusion of the lower jaw and [[chin]]),<ref name=gojaw/><ref name=gosp>{{cite journal |author=Lustmann J, Nahlielio O, Harary D, Casap N, Neder A, Zlotogora J |title=Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity |journal=Am J Med Genet. |volume=47 |issue=2 |pages=261–267 |year=1993 |month=Aug |pmid=8213917 |doi=10.1002/ajmg.1320470224 }}</ref>  
* Bowed [[long bone]]s,<ref name=difd/>  
* [[Platyspondyly]] (flattened [[vertebral column|spine]]) related to [[vertebra]]l collapse;<ref name=difd/><ref name=go79>{{cite journal |pmid=474638 |year=1979 |month= |author=Lisker R, Hernández A, Martínez-Lavin M, Mutchinick O, Armas C, Reyes P, Robles-Gil J |title=Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review |volume=3 |issue=4 |pages=389–395 |doi=10.1002/ajmg.1320030410 |journal=Am J Med Genet.}}</ref>  
* [[Kyphoscoliosis]] ([[scoliosis]] with [[kyphosis]], or "hunch back"),<ref name=go79/>  
* [[Metaphysis|metaphyseal]] peg (an unusual outgrowth of metaphyseal tissue which protrudes into the [[epiphysis|epiphyseal]] region of the bone, near the [[knee]]);<ref name=gopeg>{{cite journal |author=Eich GF, Steinmann B, Hodler J, Exner GU, Giedion A |title=Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding? |journal=Am J Med Genet. |volume=63 |issue=1 |pages=62–67 |year=1996 |month=May |pmid=8723088 |doi=10.1002/(SICI)1096-8628(19960503)63:1<62::AID-AJMG13>3.0.CO;2-S}}</ref>
* The overall physical effects and facial appearance of [[dwarfism]] with premature aging.<ref name=wd78/><ref name=gobed>{{cite journal |author=al-Torki NA, al-Awadi SA, Chindro-Heberie L, Sabry MA |title=Gerodermia osteodysplastica in a Bedouin sibship: further delineation of the syndrome |journal=Clin Dysmorphol. |volume=6 |issue=1 |pages=51–55 |year=1997 |month=Jan |pmid=9018419 |doi=10.1097/00019605-199701000-00009 }}</ref>


Other features and findings include: [[uterus|intrauterine]] growth retardation,<ref name=gotwo/> [[congenital disorder|congenital]] [[hip]] [[joint dislocation|dislocations]],<ref name=gotwo/> winged [[scapula]]e ([[shoulder|shoulder blades]]),<ref name=go79/> [[flat feet|pes planus]] (fallen [[arches of the foot|arches]]),<ref name=go79/> pseudoepiphyses of the second [[metacarpus|metacarpals]] (upper bone of the [[finger]]s),<ref name=go79/> [[hypotelorism]] (close-set [[eye]]s),<ref name=gomain/> malformed [[ear]]s,<ref name=gobed/>
Other features and findings include:  
[[delayed milestone|developmental delay]],<ref name=gotwo/>
* [[Uterus|intrauterine]] growth retardation,<ref name=gotwo/>  
[[failure to thrive]]<ref name=gomain/> and abnormal [[electroencephalography|electroencephalograph]] (EEG) readings.<ref name=gobed/>
 
* [[Congenital disorder|congenital]] [[hip]] [[joint dislocation|dislocations]],<ref name=gotwo/>  
 
* Winged [[scapula]]e ([[shoulder|shoulder blades]]),<ref name=go79/>  
 
* [[Flat feet|pes planus]] (fallen [[arches of the foot|arches]]),<ref name=go79/>  
 
* Pseudoepiphyses of the second [[metacarpus|metacarpals]] (upper bone of the [[finger]]s),<ref name=go79/>  
 
* [[Hypotelorism]] (close-set [[eye]]s),<ref name=gomain/>  
 
* Malformed [[ear]]s,<ref name=gobed/>
 
* [[Delayed milestone|developmental delay]],<ref name=gotwo/>
 
* [[Failure to thrive]]<ref name=gomain/>
 
* Abnormal [[electroencephalography|electroencephalograph]] (EEG) readings.<ref name=gobed/>


Dental and [[Orthodontics|orthodontal]] abnormalities in addition to maxillary hypoplasia and mandibular prognathism have also been observed in gerodermia osteodysplastica. Including [[malocclusion]] of the [[dental arches]] (the maxilla and mandible),<ref name=go79/> [[radiology|radiological]] findings in some cases have indicated significant overgrowth of the mandibular [[premolar]] and [[molar (tooth)|molar]] roots;<ref name=gosp/>
Dental and [[Orthodontics|orthodontal]] abnormalities in addition to maxillary hypoplasia and mandibular prognathism have also been observed in gerodermia osteodysplastica. Including [[malocclusion]] of the [[dental arches]] (the maxilla and mandible),<ref name=go79/> [[radiology|radiological]] findings in some cases have indicated significant overgrowth of the mandibular [[premolar]] and [[molar (tooth)|molar]] roots;<ref name=gosp/>
Line 42: Line 70:
Several delineating factors, however, suggest that gerodermia osteodysplastica and wrinkly skin syndrome are distinct entities, but share the same clinic spectrum.<ref name=difd/><ref name=gotwo/>
Several delineating factors, however, suggest that gerodermia osteodysplastica and wrinkly skin syndrome are distinct entities, but share the same clinic spectrum.<ref name=difd/><ref name=gotwo/>


While the prevailing feature of wrinkly, loose skin is more localized with GO, it is usually systemic, yet eases in severity with age during the course of WSS.<ref name=difd/> Also, as the [[fontanelle]]s ("soft spots") are usually normal on the heads of [[infant]]s with GO, they are often enlarged in WSS infants.<ref name=difd/>
* While the prevailing feature of wrinkly, loose skin is more localized with GO, it is usually systemic, yet eases in severity with age during the course of WSS.<ref name=difd/> Also, as the [[fontanelle]]s ("soft spots") are usually normal on the heads of [[infant]]s with GO, they are often enlarged in WSS infants.<ref name=difd/>


Although WSS is associated with [[mutation]]s of [[gene]]s on [[chromosome]]s [[chromosome 2|2]], [[chromosome 5|5]], [[chromosome 7|7]], [[chromosome 11|11]] and [[chromosome 14|14]]; no genetic mutation has been established for GO.<ref name=omim/><ref name=difd/> A [[blood plasma|serum]] [[sialotransferrin]] type 2 pattern, also observed with WSS, is not present in GO patients.<ref name=difd/>
* Although WSS is associated with [[mutation]]s of [[gene]]s on [[chromosome]]s [[chromosome 2|2]], [[chromosome 5|5]], [[chromosome 7|7]], [[chromosome 11|11]] and [[chromosome 14|14]]; no genetic mutation has been established for GO.<ref name=omim/><ref name=difd/> A [[blood plasma|serum]] [[sialotransferrin]] type 2 pattern, also observed with WSS, is not present in GO patients.<ref name=difd/>


But perhaps the most notable feature, differentiating GO from WSS and similar cutis laxa disorders, is the age-specific metaphyseal peg sometimes found in GO-affected long bone, near the knee.<ref name=gopeg/> Not appearing until around age 4&ndash;5, then disappearing by physeal closure, this oddity of bone is thought to represent a specific genetic marker unique to GO and its effects on bone development.<ref name=gopeg/>
* But perhaps the most notable feature, differentiating GO from WSS and similar cutis laxa disorders, is the age-specific metaphyseal peg sometimes found in GO-affected long bone, near the knee.<ref name=gopeg/> Not appearing until around age 4&ndash;5, then disappearing by physeal closure, this oddity of bone is thought to represent a specific genetic marker unique to GO and its effects on bone development.<ref name=gopeg/>


== Inheritance ==
== Inheritance ==
Line 62: Line 90:


==References==
==References==
{{Reflist|2}}
{{reflist|2}}


{{Congenital malformations and deformations of integument}}
{{Congenital malformations and deformations of integument}}

Latest revision as of 14:41, 2 November 2012

Gerodermia osteodysplastica
ICD-10 Q82.9
ICD-9 710.9
OMIM 231070
DiseasesDB 32101

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief:Raviteja Guddeti, M.B.B.S.[2]

Overview

Gerodermia osteodysplastica (GO), also called geroderma osteodysplasticum and Walt Disney dwarfism,[1] is a rare autosomal recessive[2] connective tissue disorder included in the spectrum of cutis laxa syndromes.[2][3]

Usage of the name "Walt Disney dwarfism" is attributed to the first known case of the disorder, documented in a 1950 journal report, in which the authors described five affected members from a Swiss family as having the physical appearance of dwarves from a Walt Disney film.[4][5]

The terms "geroderma" or "gerodermia" can be used interchangeably with "osteodysplastica" or "osteodysplasticum", with the term "hereditaria" sometimes appearing at the end.[1][6]

Clinical features

Gerodermia osteodysplastica is characterized by symptoms and features which affect the connective tissues, skin and skeletal system.

These are:

Other features and findings include:

Dental and orthodontal abnormalities in addition to maxillary hypoplasia and mandibular prognathism have also been observed in gerodermia osteodysplastica. Including malocclusion of the dental arches (the maxilla and mandible),[12] radiological findings in some cases have indicated significant overgrowth of the mandibular premolar and molar roots;[11] hypercementosis (overproduction of cementum) of the molars and maxillary incisors;[11] enlarged, funnel-shaped mandibular lingula (spiny structures on the ramus of the mandible);[11] and a radiolucent effect on portions of many teeth, increasing their transparency to x-rays.[11]

Differential diagnosis

Many features of gerodermia osteodysplastica (GO) and another autosomal recessive form of cutis laxa, wrinkly skin syndrome (WSS, Online Mendelian Inheritance in Man (OMIM) 278250), are similar to such an extent that both disorders were believed to be variable phenotypes of a single disorder.[7][8]

Several delineating factors, however, suggest that gerodermia osteodysplastica and wrinkly skin syndrome are distinct entities, but share the same clinic spectrum.[6][8]

  • While the prevailing feature of wrinkly, loose skin is more localized with GO, it is usually systemic, yet eases in severity with age during the course of WSS.[6] Also, as the fontanelles ("soft spots") are usually normal on the heads of infants with GO, they are often enlarged in WSS infants.[6]
  • But perhaps the most notable feature, differentiating GO from WSS and similar cutis laxa disorders, is the age-specific metaphyseal peg sometimes found in GO-affected long bone, near the knee.[13] Not appearing until around age 4–5, then disappearing by physeal closure, this oddity of bone is thought to represent a specific genetic marker unique to GO and its effects on bone development.[13]

Inheritance

File:Autorecessive.svg

Originally believed to be inherited in an X-linked recessive fashion,[15] gerodermia osteodysplastica is now known to display strictly autosomal recessive inheritance.[3] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

It has been associated with SCYL1BP1.[16]

See also

References

  1. ↑ 1.0 1.1 1.2 Online Mendelian Inheritance in Man (OMIM) 231070
  2. ↑ 2.0 2.1 Paul R, Kapoor S, Puri R, Bijarnia S (2004). "Gerodermia Osteodysplastica". Indian J Pediatr. 71 (12): e77–79. PMID 15630332. Unknown parameter |month= ignored (help)
  3. ↑ 3.0 3.1 Nappi C, Greco E, Anichini C, Guerra G, Di Spiezio Sardo A (2008). "Pregnancy in a gerodermia ostedysplastica patient: a case report". Am J Obstet Gynecol. 198 (1): e17–19. doi:10.1016/j.ajog.2007.09.037. PMID 18166294. Unknown parameter |month= ignored (help)
  4. ↑ Bamatter F, Franceschetti A, Klein D, Sierro A (1950). "Gerodermie osteodysplastique hereditaire". Ann Pediat. 174 (4): 126–127. doi:10.1177/0011128707308160.
  5. ↑ 5.0 5.1 Hunter AG, Martsolf JT, Baker CG, Reed MH (1978). "Geroderma osteodysplastica. A report on two affected families". Hum Genet. 40 (3): 311–324. doi:10.1007/BF00272192. PMID 631850. Unknown parameter |month= ignored (help)
  6. ↑ 6.0 6.1 6.2 6.3 6.4 6.5 6.6 6.7 6.8 6.9 Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S (2008). "Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman". Am J Med Genet. Part A. 146A (8): 965–976. doi:10.1002/ajmg.a.32143. PMID 18348262. Unknown parameter |month= ignored (help)
  7. ↑ 7.0 7.1 7.2 7.3 7.4 Al-Gazali LI, Sztriha L, Skaff F, Haas D (2001). "Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?". Am J Med Genet. 101 (3): 213–220. doi:10.1002/ajmg.1352. ISSN 0148-7299. PMID 11424136. Unknown parameter |month= ignored (help)
  8. ↑ 8.0 8.1 8.2 8.3 8.4 8.5 Nanda A, Alsaleh QA, Al-Sabah H, Marzouk EE, Salam AM, Nanda M, Anim JT (2008). "Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature". Pediatr Dermatol. 25 (1): 66–71. doi:10.1111/j.1525-1470.2007.00586.x. PMID 18304158. Unknown parameter |month= ignored (help)
  9. ↑ Boente Mdel C, Asial RA, Winik BC (2006). "Geroderma osteodysplastica. Report of a new family". Pediatr Dermatol. 23 (5): 467–472. doi:10.1111/j.1525-1470.2006.00285.x. PMID 17014644. Unknown parameter |month= ignored (help)
  10. ↑ 10.0 10.1 Hunter AG (1988). "Is geroderma osteodysplastica underdiagnosed?". J Med Genet. 25 (12): 854–857. doi:10.1136/jmg.25.12.854. PMC 1051618. PMID 3236370. Unknown parameter |month= ignored (help)
  11. ↑ 11.0 11.1 11.2 11.3 11.4 Lustmann J, Nahlielio O, Harary D, Casap N, Neder A, Zlotogora J (1993). "Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity". Am J Med Genet. 47 (2): 261–267. doi:10.1002/ajmg.1320470224. PMID 8213917. Unknown parameter |month= ignored (help)
  12. ↑ 12.0 12.1 12.2 12.3 12.4 12.5 Lisker R, Hernández A, Martínez-Lavin M, Mutchinick O, Armas C, Reyes P, Robles-Gil J (1979). "Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review". Am J Med Genet. 3 (4): 389–395. doi:10.1002/ajmg.1320030410. PMID 474638.
  13. ↑ 13.0 13.1 13.2 Eich GF, Steinmann B, Hodler J, Exner GU, Giedion A (1996). "Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding?". Am J Med Genet. 63 (1): 62–67. doi:10.1002/(SICI)1096-8628(19960503)63:1<62::AID-AJMG13>3.0.CO;2-S. PMID 8723088. Unknown parameter |month= ignored (help)
  14. ↑ 14.0 14.1 14.2 al-Torki NA, al-Awadi SA, Chindro-Heberie L, Sabry MA (1997). "Gerodermia osteodysplastica in a Bedouin sibship: further delineation of the syndrome". Clin Dysmorphol. 6 (1): 51–55. doi:10.1097/00019605-199701000-00009. PMID 9018419. Unknown parameter |month= ignored (help)
  15. ↑ Boreux, G (1969). "Osteodysplasic geroderma of sex-linked heredity, a new clinical and genetic entity". Journal de génétique humaine (in French). 17 (1): 137–78. ISSN 0021-7743. PMID 4980119. Unknown parameter |trans_title= ignored (help); Unknown parameter |month= ignored (help)
  16. ↑ Hennies HC, Kornak U, Zhang H; et al. (2008). "Gerodermia osteodysplastica is caused by mutations in SCL1BP1, a Rab-6 interacting golgin". Nat. Genet. 40 (12): 1410–2. doi:10.1038/ng.252. PMC 3122266. PMID 18997784. Unknown parameter |month= ignored (help)

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