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a group of abnormalities thought to be pathogenetically related
single primary defects (4):
Pierre Robin Sequence
mandibular hypoplasia leading to cleft lip
may be 22q11 deletion or
AD-- cleft palate big eyes
examples of malformations
cleft lip, meningomyelocele, pre-axial polydactyly
anomaly caused by abnormal mechanical force
examples of deformation
dislocated hip, torticollis, facial compression
caused by oligohydramnios
renal agenesis, pulmonary hypoplasia, rocker bottom feet, large flat ears
anomaly caused by extrinsic factor (teratogens)
amniotic band sequence
asymmetric amputations, constriction bands, distal swelling
factor required for normal morphogenesis
disordered organization of cells or tissue within a particular structure
X linked Ectodermal dysplasia
thin hair, needle like teeth, no sweating, alopecia
AD- FGFR3 gene
no soft backed chairs!
Osteogenesis Imperfecta Type II
AD skeletal dysplasia
lethal defect in collagen
accordion femurs, beaded ribs, bent long bones
group of anomalies that occur together more often than not, no cause known
Van der Woude Syndrome
AD- IRF6 gene mutation
cleft lip/palate/ lip pits
ADHD, small nose anteverted nares, mild webbed fingers
Cornelia de Lange
AD-NIPBL gene (50%)
XLR - SMC1A gene(5%)
MLL2 de novo
persistent fetal finger pads
obesity, postaxial polydact, renal anomalies, visual loss, MR
deletion maternal 15q11.2 or imprinting defect
happy disposition, hand flapping
almost all female
MR, autism, no speech
AD CBP gene (CREB binding protein) 16p13.3 deletion
MR, Hypotonia 67% Heavy eyebrows 76%
Big nose,thumbs and toes
AD- CHD7-chromatin helicase 7
Coloboma, Heart Defects, Choanal Atresia, Retardation, Genital and Ear anomalies
22Q11 Deletion syndrome
includes digeorge sequence, palatal abnormalities, hypocalcemia, immune deficiency, dental anomalies
deficiency of imprinted genes 15q11-q13
paternal deletion, maternal UPD, or imprinting defects
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