Etiology
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Aesthetic Plast Surg
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Clin Dysmorphol
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Romo T 3rd,
Shapiro AL
Arch Otolaryngol Head Neck Surg
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doi: 10.1001/archotol.1992.01880080059013.
PMID: 1642835
Diagnosis
Raible SE,
Mehta D,
Bettale C,
Fiordaliso S,
Kaur M,
Medne L,
Rio M,
Haan E,
White SM,
Cusmano-Ozog K,
Nishi E,
Guo Y,
Wu H,
Shi X,
Zhao Q,
Zhang X,
Lei Q,
Lu A,
He X,
Okamoto N,
Miyake N,
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Allen J,
Matsumoto N,
Pipan M,
Krantz ID,
Izumi K
Am J Med Genet A
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Nagasaki K,
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Am J Med Genet A
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Temtamy SA,
Aglan MS,
Ashour AM,
Ramzy MI,
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Mostafa MI
Clin Dysmorphol
2006 Apr;15(2):55-64.
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Ishmael HA,
Begleiter ML,
Regier EJ,
Butler MG
Am J Med Genet
2002 Jan 15;107(2):169-73.
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Therapy
Tellioglu AT,
Cimen K
Aesthetic Plast Surg
2007 May-Jun;31(3):306-10.
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Chen PK,
Yeow VK,
Noordhoff MS,
Chen YR
Ann Plast Surg
1999 Feb;42(2):149-53.
PMID: 10029478
Prognosis
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Acikel C
Aesthetic Plast Surg
2012 Aug;36(4):862-5.
Epub 2012 May 31
doi: 10.1007/s00266-012-9915-0.
PMID: 22648597
Gurley JM,
Pilgram T,
Perlyn CA,
Marsh JL
Plast Reconstr Surg
2001 Dec;108(7):1895-905; discussion 1906-7.
doi: 10.1097/00006534-200112000-00007.
PMID: 11743373
Chen PK,
Yeow VK,
Noordhoff MS,
Chen YR
Ann Plast Surg
1999 Feb;42(2):149-53.
PMID: 10029478
Romo T 3rd,
Shapiro AL
Arch Otolaryngol Head Neck Surg
1992 Aug;118(8):837-41.
doi: 10.1001/archotol.1992.01880080059013.
PMID: 1642835
Clinical prediction guides
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Eker HK
Childs Nerv Syst
2021 May;37(5):1779-1784.
Epub 2020 Aug 18
doi: 10.1007/s00381-020-04843-9.
PMID: 32809063
Raible SE,
Mehta D,
Bettale C,
Fiordaliso S,
Kaur M,
Medne L,
Rio M,
Haan E,
White SM,
Cusmano-Ozog K,
Nishi E,
Guo Y,
Wu H,
Shi X,
Zhao Q,
Zhang X,
Lei Q,
Lu A,
He X,
Okamoto N,
Miyake N,
Piccione J,
Allen J,
Matsumoto N,
Pipan M,
Krantz ID,
Izumi K
Am J Med Genet A
2019 Jul;179(7):1126-1138.
Epub 2019 May 6
doi: 10.1002/ajmg.a.61174.
PMID: 31058441Free PMC Article
Ferrario VF,
Dellavia C,
Colombo A,
Sforza C
Ann Plast Surg
2004 Dec;53(6):577-83.
doi: 10.1097/01.sap.0000130702.51499.6b.
PMID: 15602256
Romo T 3rd,
Shapiro AL
Arch Otolaryngol Head Neck Surg
1992 Aug;118(8):837-41.
doi: 10.1001/archotol.1992.01880080059013.
PMID: 1642835