Abstract
Aarskog sendromu boy kısalığı, tipik yüz ve parmak özellikler ve atkı (shawl) scrotum bulguları ile seyreden nadir ve kalıtsal bir hastalıktır. Burada Aarskog sendromunun özelliklerini gösteren; boy kısalığı, dismorfik yüz özellikleri, brakidaktili ve konjenital kalp hastalığı (KKH) bulguları olan 14.5 yaşındaki bir kız çocuğu ve klinik benzerlik gösteren annesi, hastalığın kadınlarda nadiren bulgu vermesi nedeniyle sunulmuştur.
References
- 1. Momes SG, Guetta-Junior G,Maciel-Guetta AT. Fernale countetpa.tt of shııwl scrotum in Aarskog-Scott syndrome. lnt Braz J UroJ. 2006; 32:459-461.
- 2. Scpulvcda W, Dczcrega V, Horvath E, .Aracena M. Ptcııatal sonogmphic diagnosis of Aımkog syndrome. ] Ultra8ound Med. 1999; 18:707-710.
- 3. Lizaıno-Gil LA, Gıın:i11.-Cruz D, Cıntu JM, Fryns JP. The fa.ciodigito-gcııital syndroınc (Aarskog syndromc): a furthct dclincatioo of the distioct mdiologial findings. Geoet Couruı. 1994;5:387-392.
- 4. Teebi AS, Naguib KK, Al-Awııdi S, Al-Saleh QA. New autosomal recessivc f.aciodigitogcııitalsyndromc.J Med Gcnet. 1988;25:400-406.
- 5. Scııraııo G, Rinalcli MM, Cavaliere ML, Esposito M, Sicolo A, Sıntulli B, Stabile M, Fas:lllO R, Veotmto V. Aarskog's syndroınc (fa.cialdigital-gcııital syndroınc). Study of a f.amily (authoı:'s ttans~. Pc:diatt MedChir. 1981;3:323-325.
- 6. Cincion11.ti P, Lomb11.rdi AM, Morelli M, Rutiloni C. Aarskog syndromc. A case tcport. Mioc:rva Pedi11.tt. 1994;46:407-41 O.
- 7. Noutaci SM, Ha= A, Chaudhari MP, DuoniogJ. Aarskog syndrome with aortic toot dilatation ınd sub-valvulat aottic steoosis: sll!gical maııagemcnt. lntcrııct C11.rdiovasc Tborac Suı:g. 2005;4:47-48.
- 8. Chaddha V, Phadke SR. Aarskog syndrome. Indiao Pedi11.trics. 2002; 39:400.
- 9. Gricr RE, Farı:ington FH, Kcndig R, Maınıınes P. Autosomal dominant inheritance of the Aarskog syndrome. Am J Med Gcnet. 1983; 15:39-46.
- 10. vıın de Vooren MJ, Niemıcijer MF, Hoogcboom AJ. The Aarskog syndrome in a large faınily, suggestivc for autosomal dominant inheritance. Clin Genet. 1983;24:439-445.
- 11. Bawle E, Tyrk:us M, Lipmao S, Boziınowski D. Aarskog syoclromc: full male ınd feıruı.le expression 11.Ssoci11.ted with an X-11.utosome translocation.Am] Med Genet. 1984;17:595-602.
- 12. Ouico A, Galli L, Cavalicre ML, Garavdli L, Fryns JP, Crushcll E, Rinalcli MM, Medeim A, Serentioo V: Pheootypic aod moJecıılar characterisation of the Aarskog-Soott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. EurJ Hum Geoet. 2004; 12: 16-23
Abstract
Aarskog syndrome is a rare and inherited disease associated with short stature, typical facial and
digital features and shawl scrotum. Here, we report a female 14.5 year-old Aarskog syndrome
case, with short stature, dysmorphic facial features, brachydactyly and congenital heart disease
(CHD).She and her mother with similar clinical features are presented as females with clinical
features are very rare
References
- 1. Momes SG, Guetta-Junior G,Maciel-Guetta AT. Fernale countetpa.tt of shııwl scrotum in Aarskog-Scott syndrome. lnt Braz J UroJ. 2006; 32:459-461.
- 2. Scpulvcda W, Dczcrega V, Horvath E, .Aracena M. Ptcııatal sonogmphic diagnosis of Aımkog syndrome. ] Ultra8ound Med. 1999; 18:707-710.
- 3. Lizaıno-Gil LA, Gıın:i11.-Cruz D, Cıntu JM, Fryns JP. The fa.ciodigito-gcııital syndroınc (Aarskog syndromc): a furthct dclincatioo of the distioct mdiologial findings. Geoet Couruı. 1994;5:387-392.
- 4. Teebi AS, Naguib KK, Al-Awııdi S, Al-Saleh QA. New autosomal recessivc f.aciodigitogcııitalsyndromc.J Med Gcnet. 1988;25:400-406.
- 5. Scııraııo G, Rinalcli MM, Cavaliere ML, Esposito M, Sicolo A, Sıntulli B, Stabile M, Fas:lllO R, Veotmto V. Aarskog's syndroınc (fa.cialdigital-gcııital syndroınc). Study of a f.amily (authoı:'s ttans~. Pc:diatt MedChir. 1981;3:323-325.
- 6. Cincion11.ti P, Lomb11.rdi AM, Morelli M, Rutiloni C. Aarskog syndromc. A case tcport. Mioc:rva Pedi11.tt. 1994;46:407-41 O.
- 7. Noutaci SM, Ha= A, Chaudhari MP, DuoniogJ. Aarskog syndrome with aortic toot dilatation ınd sub-valvulat aottic steoosis: sll!gical maııagemcnt. lntcrııct C11.rdiovasc Tborac Suı:g. 2005;4:47-48.
- 8. Chaddha V, Phadke SR. Aarskog syndrome. Indiao Pedi11.trics. 2002; 39:400.
- 9. Gricr RE, Farı:ington FH, Kcndig R, Maınıınes P. Autosomal dominant inheritance of the Aarskog syndrome. Am J Med Gcnet. 1983; 15:39-46.
- 10. vıın de Vooren MJ, Niemıcijer MF, Hoogcboom AJ. The Aarskog syndrome in a large faınily, suggestivc for autosomal dominant inheritance. Clin Genet. 1983;24:439-445.
- 11. Bawle E, Tyrk:us M, Lipmao S, Boziınowski D. Aarskog syoclromc: full male ınd feıruı.le expression 11.Ssoci11.ted with an X-11.utosome translocation.Am] Med Genet. 1984;17:595-602.
- 12. Ouico A, Galli L, Cavalicre ML, Garavdli L, Fryns JP, Crushcll E, Rinalcli MM, Medeim A, Serentioo V: Pheootypic aod moJecıılar characterisation of the Aarskog-Soott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. EurJ Hum Geoet. 2004; 12: 16-23
Details
| Other ID | JA46NU87UA |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | April 1, 2008 |
| Submission Date | April 1, 2008 |
| Published in Issue | Year 2008 Volume: 2 Issue: 3 |
Cite
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
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