Öz
Özet
Yüz asimetrisine fasiyal paralizi dışında “konjenital asimetrik ağlayan yüz” olarak adlandırılan depresör anguli oris kasının tek taraflı hipoplazisi veya aplazisi de neden olabilir. Kardiyovasküler, ürogenital, iskelet, solunum veya santral sinir sistemlerini ilgilendiren bazı doğumsal anomaliler bu tabloya eşlik edebilir. Burada, sağ depresör anguli oris kası disfonksiyonuna bağlı fasiyal asimetrisiye el parmak anomalileri, pulmoner stenoz ve ektopik yerleşimli hipoplazik sağ böbrek anomalilerin eşlik ettiği bir yenidoğan olgusu sunuldu. Bu hastaların eşlik eden başka anomaliler yönünden titizlikle araştırılması gerekmektedir.
Anahtar sözcükler: Depresör anguli oris kası, yüz asimetrisi, doğumsal anomali
Abstract
Facial asymmetry may also be the result of unilateral congenital hypoplasia or aplasia of the depressor anguli oris muscle, which is called as “congenital asymmetric crying facies”; rather than being solely due to facial paralysis. Additional anomalies related to cardiovascular, genitourinary, skeletal, respiratory, or central nervous systems can also accompany this disorder. Herein, we present a case of neonate with facial asymmetry due to right depressor anguli oris muscle dysfunction together with finger anomalies, pulmonary stenosis, and ectopic hypoplastic right kidney. These patients should be carefully investigated for the accompanying other anomalies.
Keywords: Musculus depressor anguli oris, facial asymmetry, congenital anomaly
Anahtar Kelimeler
Kaynakça
- Falco NA, Eriksson E. Facial nerve palsy in the newborn: incidence and outcome. Plast Reconstr Surg 1990; 85: 1-4.
- Bawle EV, Conard J, Van Dyke DL, Czarnecki P, Driscoll DA. Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. Am J Med Genet 1998; 79: 406-10.
- Wright EM, O'Connor R, Kerr BA. Radial aplasia in CHARGE syndrome: a new association. Eur J Med Genet 2009; 52: 239-41.
- Stoll C, Viville B, Treisser A, Gasser B. A family with dominant oculoauriculovertebral spectrum. Am J Med Genet 1998; 78: 345-9.
- Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK. Duplication of 7p12.1- p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet 1999; 105: 273-80.
- Bonar BE, Owens RW. Bilateral congenital facial paralysis: review of the literature and a classification. Am J Dis Child 1929; 38: 1256-72.
- Pape KE, Pickering D. Asymmetric crying facies: an index of other congenital anomalies. J Pediatr 1972; 81: 21-30.
- Lahat E, Heyman E, Barkay A, Goldberg M. Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature. J Child Neurol 2000; 15: 808-10.
- Cayler GG. Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child 1969; 44: 69-75.
- Lin DS, Huang FY, Lin SP, Chen MR, Kao HA, Hung HY, Hsu CH. Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: a study of 50 patients. Am J Med Genet 1997; 71: 215-8.
- Dubnov-Raz G, Merlob P, Geva-Dayan K, Blumenthal D, Finkelstein Y. Increased rate of major birth malformations in infants with neonatal "asymmetric crying face": a hospital-based cohort study. Am J Med Genet A 2007; 143: 305- 10.
- Akçakuş M, Güneş T, Kurtoğlu S, Cetin N, Ozkul Y, Narin N, Atabek ME, Uğraş R. Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion. Turk J Pediatr 2004; 46: 191-3.
- Rioja-Mazza D, Lieber E, Kamath V, Kalpatthi R. Asymmetric crying facies: a possible marker for congenital malformations. J Matern Fetal Neonatal Med 2005; 18: 275-7.
- Toelle SP, Boltshauser E. Long-term outcome in children with congenital unilateral facial nerve palsy. Neuropediatrics 2001; 32: 130-5.
- Caksen H, Odabaş D, Tuncer O, Kirimi E, Tombul T, İkbal M, Ataş B, Ari Yuca S. A review of 35 cases of asymmetric crying facies. Genet Couns 2004; 15: 159- 65.
Öz
Yüz asimetrisine fasiyal paralizi dışında “konjenital asimetrik ağlayan yüz” olarak adlandırılan
depresör anguli oris kasının tek taraflı hipoplazisi veya aplazisi de neden olabilir. Kardiyovasküler,
ürogenital, iskelet, solunum veya santral sinir sistemlerini ilgilendiren bazı doğumsal anomaliler
bu tabloya eşlik edebilir. Burada, sağ depresör anguli oris kası disfonksiyonuna bağlı fasiyal
asimetrisiye el parmak anomalileri, pulmoner stenoz ve ektopik yerleşimli hipoplazik sağ böbrek
anomalilerin eşlik ettiği bir yenidoğan olgusu sunuldu. Bu hastaların eşlik eden başka anomaliler
yönünden titizlikle araştırılması gerekmektedir.
Anahtar Kelimeler
Kaynakça
- Falco NA, Eriksson E. Facial nerve palsy in the newborn: incidence and outcome. Plast Reconstr Surg 1990; 85: 1-4.
- Bawle EV, Conard J, Van Dyke DL, Czarnecki P, Driscoll DA. Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. Am J Med Genet 1998; 79: 406-10.
- Wright EM, O'Connor R, Kerr BA. Radial aplasia in CHARGE syndrome: a new association. Eur J Med Genet 2009; 52: 239-41.
- Stoll C, Viville B, Treisser A, Gasser B. A family with dominant oculoauriculovertebral spectrum. Am J Med Genet 1998; 78: 345-9.
- Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK. Duplication of 7p12.1- p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet 1999; 105: 273-80.
- Bonar BE, Owens RW. Bilateral congenital facial paralysis: review of the literature and a classification. Am J Dis Child 1929; 38: 1256-72.
- Pape KE, Pickering D. Asymmetric crying facies: an index of other congenital anomalies. J Pediatr 1972; 81: 21-30.
- Lahat E, Heyman E, Barkay A, Goldberg M. Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature. J Child Neurol 2000; 15: 808-10.
- Cayler GG. Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child 1969; 44: 69-75.
- Lin DS, Huang FY, Lin SP, Chen MR, Kao HA, Hung HY, Hsu CH. Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: a study of 50 patients. Am J Med Genet 1997; 71: 215-8.
- Dubnov-Raz G, Merlob P, Geva-Dayan K, Blumenthal D, Finkelstein Y. Increased rate of major birth malformations in infants with neonatal "asymmetric crying face": a hospital-based cohort study. Am J Med Genet A 2007; 143: 305- 10.
- Akçakuş M, Güneş T, Kurtoğlu S, Cetin N, Ozkul Y, Narin N, Atabek ME, Uğraş R. Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion. Turk J Pediatr 2004; 46: 191-3.
- Rioja-Mazza D, Lieber E, Kamath V, Kalpatthi R. Asymmetric crying facies: a possible marker for congenital malformations. J Matern Fetal Neonatal Med 2005; 18: 275-7.
- Toelle SP, Boltshauser E. Long-term outcome in children with congenital unilateral facial nerve palsy. Neuropediatrics 2001; 32: 130-5.
- Caksen H, Odabaş D, Tuncer O, Kirimi E, Tombul T, İkbal M, Ataş B, Ari Yuca S. A review of 35 cases of asymmetric crying facies. Genet Couns 2004; 15: 159- 65.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 20 Haziran 2011 |
| Yayımlandığı Sayı | Yıl 2011Cilt: 33 Sayı: 2 |