Congenital 2 Flashcards
Holoprosencephaly is a
Malformation sequence
Incomplete cleavage of _____________ > holoprosencephaly, synopthalmia (ocular hypotelorism)
Prosencephalon
Fault ____ development > proboscis, cleft lip, and absent mid facial or anterior cranial base bones
Bifacial
Micrognathia > abnormal tongue position > U-shaped cleft palate > possible airway obstruction
Robin sequence
Renal agenesis and amniotic leak can cause
Oligohydramnios
______________ can cause pulmonary hypoplasia, amnion nodosum, and fetal compression
Oligohydramnios
Combination of anomalies which frequently occur together
Association
Coloboma of eye, heart defects, atresia of choanne, retardation of growth/development, genital anomalies, and ear anomalies
CHARGE association
CHARGE association
Coloboma of eye, heart defects, atresia of choanne, retardation of growth/development, genital anomalies, and ear anomalies
Müllerian duct, renal and cervical vertebral defects
MURCS
MURCS
Müllerian duct, renal and cervical vertebral defects
Vertebral defects, imperforate anus, TE fistula, renal or radial Ray defects
VATER
VATER
Vertebral defects, imperforate anus, TE fistula, renal or radial Ray defects
Anomalies of several different structures that lie in the same body region during embryogenesis
Complex
Omphalocele, exstrophy, imperforate anus, spinal defects
OEIS complex
OEIS complex
Omphalocele, exstrophy, imperforate anus, spinal defects
Multiple structural defects in one or more tissues due to a chromosomal, genetic, teratogenic, or unknown insult that impairs multiple tissues
Syndrome
Short stature, MR, limb defects, characteristic facies
Cornealia de Lange Syndrome
Caused by mutations in NIPBL
Cornelia de Lange Syndrome
Cascade of effects stemming from a single localized abnormality early in morphogenesis. Could be malformation, disruption, or deformation
Sequence
Defects in eyes, lungs, cardiovascular and genitourinary systems
Vitamin A deficiency
Craniofacial malformations, congenital heart disease, thymic ectopia/hypoplasia/aplasia, CNS malformations, limb anomalies
Retinoic acid embryopathy
Microtia/anotia
Small, absent ears
Midline hemangioma, flat nasal bridge, phocomelia (limb defects)
Thalidomide embryopathy
