Cleft velum

Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 10

                       


(per page)
PMID (PMCID)
19449431
 MALE Infant, Newborn
Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review.
Griffith CB, Vance GH, Weaver DD.
Am J Med Genet A. 2009;149A(6):1346-58.
His other dysmorphic features included micrognathia, cleft soft palate, and an axillary pterygium.
16080298
 MALE Infant, Newborn
A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype.
Tatar A, Oztas S, Yakut T, Ors R.
Genet Couns. 2005;16(2):173-7.
Here we report a 6-day old male baby with prenatal growth retardation, frontal bossing, hypertelorism, micrognathia, cleft soft palate, absent uvula, hypospadias, simian line in both hands and hammer toes.
12748800
 MALE
Pierre-Robin syndrome associated with Chiari type I malformation.
Lee J, Hida K, Seki T, Kitamura J, Iwasaki Y.
Childs Nerv Syst. 2003;19(5-6):380-3.
Pierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate.
8882789
 MALE Infant, Newborn
Cerebro-costo-mandibular syndrome.
Plotz FB, van Essen AJ, Bosschaart AN, Bos AP.
Am J Med Genet. 1996;62(3):286-92.
He had severe micrognathia with glossoptosis and a cleft soft palate were noted.
8923938
 MIXED_SAMPLE Infant, Newborn
Toriello-Carey syndrome: evidence for X-linked inheritance.
Czarnecki P, Lacombe D, Weiss L.
Am J Med Genet. 1996;65(4):291-4.
The first patient, a male, was born at term by Cesarean section and manifests micrognathia, cleft soft palate, hypoplastic right ear, anotia on the left side, cerebellar vermis hypoplasia, hydrocephalus, agenesis of the corpus callosum, and hypoplastic left heart.
8160749
 MALE Infant, Newborn
Confirmation of proximal 1q duplication using fluorescence in situ hybridization.
Chen H, Kusyk CJ, Tuck-Muller CM, Martinez JE, Dorand RD, Wertelecki W.
Am J Med Genet. 1994;50(1):28-31.
We report on a boy with excessively wrinkled skin, mild micro/brachycephaly with mild hydrocephalus and slightly small temporal lobes, apparently low-set ears, retro/micrognathia and cleft soft palate (Pierre-Robin anomaly), patent ductus arteriosus and foramen ovale, pulmonary hypoplasia, eventration of the left hemidiaphragm, right cryptorchidism, a sacral dimple, flexion contractures of fingers and knees, and equinovarus deformities of both feet.
1520180
 MALE Infant, Newborn
Cerebro-costo-mandibular syndrome.
Lim CT, Koh MT.
Australas Radiol. 1992;36(2):158-9.
We describe a patient with typical features: severe micrognathia, glossoptosis, central cleft soft palate and multiple posterior rib-gap defects seen on chest radiograph.
3694355
 MALE Infant
Congenital agastria.
Dorney SF, Middleton AW, Kozlowski K, Benjamin BN, Kan AE, Kamath KR.
J Pediatr Gastroenterol Nutr. 1987;6(2):307-10.
The child also had a severe micrognathia and a cleft soft palate and required a tracheostomy to relieve upper airway obstruction.
3585945
 MALE
Partial trisomy 6q: case report with necropsy findings.
Franchino CJ, Beneck D, Greco MA, Wolman SR.
J Med Genet. 1987;24(5):300-3.
This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation.
7270516
 MALE Infant
Ring 4 chromosome with terminal p and q deletions.
Finley WH, Finley SC, Chonmaitree T, Koors JE, Chandler WC.
Am J Dis Child. 1981;135(8):729-31.
A ring 4 chromosome was found in a boy with low birth weight, microcephaly, micrognathia, rounded broad nose, malformed ears, cleft soft palate, and retardation in growth and development.