Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney <i>etc.</i>).

Micrognathia

Developmental hypoplasia of the mandible.

Total: 6

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PMID (PMCID)
25809435	MALE	Infant, Newborn
	i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome.
	Galderisi A, De Bernardo G, Lorenzon E, Trevisanuto D. BMJ Case Rep. 2015;2015:.
	The current report describes the first case of a very low birthweight infant (1470 g, <3rd centile; 36(+3)gestational weeks) with micrognathia and palate cleft with Cornelia De Lange syndrome, resuscitated at birth with a new supraglottic airway device, i-gel size-1, positioned by a trainee paediatrician at first attempt.
19430566 (2678707)	MALE	Child
	Dental findings in Cornelia de Lange syndrome.
	Toker AS, Ay S, Yeler H, Sezgin I. Yonsei Med J. 2009;50(2):289-92.
	During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinson's syndrome, which had never been reported before.
15793836	FEMALE	Infant, Newborn
	A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.
	Ounap K, Ilus T, Bartsch O. Am J Med Genet A. 2005;134(4):434-8.
	The facial appearance (hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, low set malformed and posteriorly rotated ears) showed resemblance to the Brachmann-de Lange syndrome (BDLS), but the patient did not fulfill the diagnostic criteria for BDLS.
15446685	MALE	Child
	[Anesthetic management in a patient with Cornelia de Lange syndrome].
	Mizuno J, Ichiishi N, In-nami H, Hanaoka K. Masui. 2004;53(8):921-4.
	The patient with Cornelia de Lange syndrome had severe primordial growth failure with muscle-skeletal system such as cleft palate, micrognathia, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc.
9621675	MALE	Adult
	[General anesthesia in a patient with Cornelia de Lange syndrome with restricted opening of the mouth].
	Yo T, Noguchi I, Kimura T, Sasao M, Amemiya Y, Sekiya H, Kobayashi K. Masui. 1998;47(5):611-4.
	Patients with Cornelia de Lange syndrome have many anomalies including micrognathia with a small mouth, a high arched palate, and a short neck, which might make laryngoscopy for tracheal intubation difficult during induction of general anesthesia.
4050847	MIXED_SAMPLE	Infant, Newborn
	Further delineation of the dup(3q) syndrome.
	Wilson GN, Dasouki M, Barr M Jr. Am J Med Genet. 1985;22(1):117-23.
	Data on 40 cases now reported define a characteristic face with hirsutism, synophrys, broad nasal root, anteverted nares, downturned corners of the mouth, micrognathia, and malformed ears recognizable even in the 30-week fetus and distinct from that of the Brachmann-de Lange syndrome.