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The Freeman-Sheldon syndrome (Whistling face)

Year 2005, Volume 36, Issue 4, 189 - 193, 01.05.2005

Abstract

The Freeman- Sheldon Syndrome is a rare hereditary disorder that was described by these authors in 1938 under the name of "craniocarpotarsal dystrophia". The appearance of the face is the most stricking feature and the characteristics include microstomia with puckered lips, which gives the person a whistling appearance, long philtrum, flat face, contracted joints of fingers and ulnar deviation. Respiratory and swallowing problems are frequently encountered in these patients. This article describes a case of Freeman Sheldon syndrome with a 2400g birth weight and 37 weeks of gestation. The infant manifested the typical dysmorphic features of this syndrome and suffered from serious respiratory distress and swallowing difficulties from birth. Additionally, she had bilateral congenital hip dislocation and atrial septal defect.

References

  • 1.Freeman EA, Sheldon JH. Cranio-carpotarsal dystrophy: an undescrîbed congenital malformation
  • Arch Dis Child 1938;13:277-283
  • 2.Burian F. The "whistling face" characteristic in a compound cranio-facio-carpal syndrome. Br J Plast Surg 1963;16:140-163
  • 3.Antley RM, Uga N, Burzynski NJ, Baum RS, Bixler D. Diagnostic criteria for the whistling face syndrome. Birth Defects Orig. Art. Ser 1975;XI(5):161-168
  • 4.Savini R, Gualdrini G. Report on two cases of Freeman-Sheldon syndrome f'whistling face). Ital J Orthop Traumatol. 1980 Apr;6(1):105-H5
  • 5.Schefels J, Wenzl TG, Merz U, Ramaekers V, Holzki J, Rudnik-Schoeneborn S, Hermanns B, Hornchen H. Functional upper airway obstruction in a child with Freeman-Sheldon syndrome. ORL J Otorhinolaryngol Relat Spec. 2002 Jan-Feb;64(1):53-56
  • 6.Sang HR, Saarwork JF, Sountry S, Grant J.Freeman-Sheldon Syndrome (Whistling Face Syndrome) and cranio-vertebral junction malformation producing dysphagia and weight loss. Pediatric Neurosurg 1996;24 (5) : 272-274
  • 7.Hashemi G. The whistling face syndrome: report of a case with a renal anomaly. Indian J Pediatr 1973;40:23-24
  • 8.Alves AFP, Azevedo ES. Recessive form of Freeman-Sheldon's syndrome or "whistling face"
  • J Med Genet 1977;14:139-141
  • 9.O'Connell DJ, Hall CM. Cranio-carpo-tarsal dysplasia: a report of seven cases, Pediatr Radiol 1977;123:719-722
  • 10.BG Kousseff,.P Me Connachie ve TA Hadro
  • Autosomal recessive type of whistling face syndrome in twins.Pediatrics, 1982 Mart; 69 (3 ): 328-331
  • 11.Schrander-Stumpel C, Fryns JP, Beemer FA, Rive FA. Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. Am J Med Genet 1991;38:557-561 12.Zampino G, Conti G, Balducci F, Moschini M, Macchiaiolo M, Mastroiacovo P. Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss. Am J Med Genet 1996;62:293-296 13.Lev D, Yanoov M, Weintraub S, Lerman-Sagie T. Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. J Med Genet 2000; 37: 231-233 (March)
  • 14.Bamshad M, BohnsackJF, Jorde LB, Carey JC
  • Distal arthrogryposis type 1: clinical analysis of a large kindred. Am J Med Genet 1996;65:282-285 15.Ilium N. Reske-Nielsen E, Skovby F, Askjaer SA, Bernsen A. Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system
  • Neuropediatrics 1988; 19:186-192 16.Hagberg BA, Blennow G, Kristiansson B, Stibler H. Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol 1993;9:255-262.

Freeman-Sheldon sendromu (Islık çalan yüz)

Year 2005, Volume 36, Issue 4, 189 - 193, 01.05.2005

Abstract

Freeman-Sheldon Sendromu (Islık çalan yüz), 1938 yılında kranio-karpotarsal distrofi adı altında sendroma adını veren yazarlarca tanımlanan nadir herediter bir hastalıktır. Başlıca özellikleri, yüze ıslık çalma görünümü veren büzülmüş ağız, uzun filtrum, düz bir yüz, el ve ayak parmaklarında fleksiyon ve ulnar deviasyondur. Solunum ve yutma problemleri en sık karşılaşılan sorunlardır. Bu sunumda, 2400g ağırlığında, 37 gestasyon haftasında ikiz eşi olarak doğan, solunum sıkıntısı nedeniyle servise yatırılan ve Freeman-Sheldon Sendromu tanısı konulan bir hasta sunuldu. Hastada, sendromun başlıca bulgularının yanında bilateral doğumsal kalça displazisi ve atrial septal defekt saptandı. Neonatal trismus olgularında akla gelmesi ve nadir bir sendrom olması nedeniyle sunulmaya değer bulundu.

References

  • 1.Freeman EA, Sheldon JH. Cranio-carpotarsal dystrophy: an undescrîbed congenital malformation
  • Arch Dis Child 1938;13:277-283
  • 2.Burian F. The "whistling face" characteristic in a compound cranio-facio-carpal syndrome. Br J Plast Surg 1963;16:140-163
  • 3.Antley RM, Uga N, Burzynski NJ, Baum RS, Bixler D. Diagnostic criteria for the whistling face syndrome. Birth Defects Orig. Art. Ser 1975;XI(5):161-168
  • 4.Savini R, Gualdrini G. Report on two cases of Freeman-Sheldon syndrome f'whistling face). Ital J Orthop Traumatol. 1980 Apr;6(1):105-H5
  • 5.Schefels J, Wenzl TG, Merz U, Ramaekers V, Holzki J, Rudnik-Schoeneborn S, Hermanns B, Hornchen H. Functional upper airway obstruction in a child with Freeman-Sheldon syndrome. ORL J Otorhinolaryngol Relat Spec. 2002 Jan-Feb;64(1):53-56
  • 6.Sang HR, Saarwork JF, Sountry S, Grant J.Freeman-Sheldon Syndrome (Whistling Face Syndrome) and cranio-vertebral junction malformation producing dysphagia and weight loss. Pediatric Neurosurg 1996;24 (5) : 272-274
  • 7.Hashemi G. The whistling face syndrome: report of a case with a renal anomaly. Indian J Pediatr 1973;40:23-24
  • 8.Alves AFP, Azevedo ES. Recessive form of Freeman-Sheldon's syndrome or "whistling face"
  • J Med Genet 1977;14:139-141
  • 9.O'Connell DJ, Hall CM. Cranio-carpo-tarsal dysplasia: a report of seven cases, Pediatr Radiol 1977;123:719-722
  • 10.BG Kousseff,.P Me Connachie ve TA Hadro
  • Autosomal recessive type of whistling face syndrome in twins.Pediatrics, 1982 Mart; 69 (3 ): 328-331
  • 11.Schrander-Stumpel C, Fryns JP, Beemer FA, Rive FA. Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. Am J Med Genet 1991;38:557-561 12.Zampino G, Conti G, Balducci F, Moschini M, Macchiaiolo M, Mastroiacovo P. Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss. Am J Med Genet 1996;62:293-296 13.Lev D, Yanoov M, Weintraub S, Lerman-Sagie T. Progressive neurological deterioration in a child with distal arthrogryposis and whistling face. J Med Genet 2000; 37: 231-233 (March)
  • 14.Bamshad M, BohnsackJF, Jorde LB, Carey JC
  • Distal arthrogryposis type 1: clinical analysis of a large kindred. Am J Med Genet 1996;65:282-285 15.Ilium N. Reske-Nielsen E, Skovby F, Askjaer SA, Bernsen A. Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system
  • Neuropediatrics 1988; 19:186-192 16.Hagberg BA, Blennow G, Kristiansson B, Stibler H. Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol 1993;9:255-262.

Details

Primary Language Turkish
Journal Section Articles
Authors

Emel ALTUNCU This is me


Sultan KAVUNCUOĞLU This is me


Neslihan MELİKOĞLU This is me


Sinem ORAL This is me


Esin Yıldız ALDEMİR This is me


Sibel ÖZBEK This is me

Publication Date May 1, 2005
Published in Issue Year 2005, Volume 36, Issue 4

Cite

Bibtex @ { zktipb236850, journal = {Zeynep Kamil Tıp Bülteni}, issn = {1300-7971}, eissn = {2148-4864}, address = {}, publisher = {Zeynep Kamil Kadın ve Çocuk Hastalıkları EAH}, year = {2005}, volume = {36}, number = {4}, pages = {189 - 193}, doi = {10.16948/zktb.20629}, title = {Freeman-Sheldon sendromu (Islık çalan yüz)}, key = {cite}, author = {Altuncu, Emel and Kavuncuoğlu, Sultan and Melikoğlu, Neslihan and Oral, Sinem and Aldemir, Esin Yıldız and Özbek, Sibel} }
APA Altuncu, E. , Kavuncuoğlu, S. , Melikoğlu, N. , Oral, S. , Aldemir, E. Y. & Özbek, S. (2005). Freeman-Sheldon sendromu (Islık çalan yüz) . Zeynep Kamil Tıp Bülteni , 36 (4) , 189-193 . Retrieved from https://dergipark.org.tr/en/pub/zktipb/issue/22057/236850
MLA Altuncu, E. , Kavuncuoğlu, S. , Melikoğlu, N. , Oral, S. , Aldemir, E. Y. , Özbek, S. "Freeman-Sheldon sendromu (Islık çalan yüz)" . Zeynep Kamil Tıp Bülteni 36 (2005 ): 189-193 <https://dergipark.org.tr/en/pub/zktipb/issue/22057/236850>
Chicago Altuncu, E. , Kavuncuoğlu, S. , Melikoğlu, N. , Oral, S. , Aldemir, E. Y. , Özbek, S. "Freeman-Sheldon sendromu (Islık çalan yüz)". Zeynep Kamil Tıp Bülteni 36 (2005 ): 189-193
RIS TY - JOUR T1 - Freeman-Sheldon sendromu (Islık çalan yüz) AU - Emel Altuncu , Sultan Kavuncuoğlu , Neslihan Melikoğlu , Sinem Oral , Esin Yıldız Aldemir , Sibel Özbek Y1 - 2005 PY - 2005 N1 - DO - T2 - Zeynep Kamil Tıp Bülteni JF - Journal JO - JOR SP - 189 EP - 193 VL - 36 IS - 4 SN - 1300-7971-2148-4864 M3 - UR - Y2 - 2022 ER -
EndNote %0 Medical Bulletin of Zeynep Kamil Freeman-Sheldon sendromu (Islık çalan yüz) %A Emel Altuncu , Sultan Kavuncuoğlu , Neslihan Melikoğlu , Sinem Oral , Esin Yıldız Aldemir , Sibel Özbek %T Freeman-Sheldon sendromu (Islık çalan yüz) %D 2005 %J Zeynep Kamil Tıp Bülteni %P 1300-7971-2148-4864 %V 36 %N 4 %R %U
ISNAD Altuncu, Emel , Kavuncuoğlu, Sultan , Melikoğlu, Neslihan , Oral, Sinem , Aldemir, Esin Yıldız , Özbek, Sibel . "Freeman-Sheldon sendromu (Islık çalan yüz)". Zeynep Kamil Tıp Bülteni 36 / 4 (May 2005): 189-193 .
AMA Altuncu E. , Kavuncuoğlu S. , Melikoğlu N. , Oral S. , Aldemir E. Y. , Özbek S. Freeman-Sheldon sendromu (Islık çalan yüz). Zeynep Kamil Tıp Bülteni. 2005; 36(4): 189-193.
Vancouver Altuncu E. , Kavuncuoğlu S. , Melikoğlu N. , Oral S. , Aldemir E. Y. , Özbek S. Freeman-Sheldon sendromu (Islık çalan yüz). Zeynep Kamil Tıp Bülteni. 2005; 36(4): 189-193.
IEEE E. Altuncu , S. Kavuncuoğlu , N. Melikoğlu , S. Oral , E. Y. Aldemir and S. Özbek , "Freeman-Sheldon sendromu (Islık çalan yüz)", Zeynep Kamil Tıp Bülteni, vol. 36, no. 4, pp. 189-193, May. 2005, doi:10.16948/zktb.20629