Results 91 to 100 of about 60,147,798 (196)

General anaesthesia with and without intubation for patients with Cornelia de Lange syndrome [PDF]

, 2010
We present the use of different methods of general anaesthesia in two patients with Cornelia de Lange syndrome and its contribution to the patients’ oral health.Case 1: The patient was a 22-year-old woman with Cornelia de Lange syndrome who underwent ...
Kawai, Y, Omichi, S, Kogo, M, Sugimoto, M, Suzuki, T, Asahi, Y, Tsujimoto, I, Kotani, J   +7 more
core  

Cornelia de Lange syndrome: a case report.

Medicina oral, patologia oral y cirugia bucal, 2007
Cornelia de Lange is a genetic syndrome which affects between 1/10.000 and 1/60.000 neonates, but its genetic bases are still not clear. Its principal clinical characteristics are the delay in growth and development, hirsute, structural anomalies in the limbs and distinctive facial characteristic. Dental problems are frequent and include: ogival palate,
Grau Carbó,Joaquim, López Jiménez,Julian, Giménez Prats,Mª José, Sànchez Molins,Meritxell   +3 more
openaire   +3 more sources

An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy

, 2013
[[abstract]]We present a 19-year-old male with laxity of skin and joints, sparse scalp hair, facial dysmorphism, epilepsy, multiple exostoses, scoliosis, gastroesophageal reflux, cardiovascular defects, and an 8q23.3-q24.22 deletion detected by array ...
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Liu, Yu-Peng;Liu, Yu-Peng;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen
core  

Síndrome Cornelia de Lange: una aproximación a las limitaciones psicomotoras que provoca

Multimed, 2018
RESUMEN La presentación del caso que se refiere pertenece a un lactante, cuyo desarrollo durante su primer año de vida estuvo condicionado por el síndrome Cornelia de Lange, diagnosticado desde los 6 meses de edad.
Marlien de la Caridad Rodríguez Figueredo
doaj  

[A case of Cornelia de Lange syndrome].

Shoni shikagaku zasshi. The Japanese journal of pedodontics, 1984
Sorata, Yasuhiro, Inoue, Hideto, Kinoshita, Takaaki, Uchino, Kouichi, Kimura, Mitsutaka, Ishii, Kimio   +5 more
openaire   +2 more sources

Unraveling a Rare Diagnosis: Genetically Confirmed Cornelia De Lange Syndrome in an Emirati Female Patient. [PDF]

Cureus
Tobia HT, Alalawi F, Mohan D, Alhadari A.   +3 more
europepmc   +1 more source

P257: Sleep correlates of behavior functioning in Cornelia de Lange syndrome

Genetics in Medicine Open
Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie Kline   +3 more
doaj   +1 more source

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of <i>RAD21</i> Deletion. [PDF]

Hum Mutat
Xie Y, Li D, Li W, Tao Y, Tang L, Li L, Li G, Jiang H.   +7 more
europepmc   +1 more source

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome

A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1.
Ireland M, Cross I, Houlsby WT, English C, Burn J   +4 more
core   +2 more sources

Exploring Upper Limb Malformation Associated With Cornelia De Lange Syndrome: A Clinical Case Report. [PDF]

Case Rep Obstet Gynecol
Kurniawan AP, Abdurrazak G, Muthalib AA, Hasani RDK.   +3 more
europepmc   +1 more source