Patterns of Congenital Abnormalities Lecturer of Experimental Embryology Zoology Dept., Faculty of Science, Mansoura University Causes of human congenital anomalies Down syndrome (Trisomy 21) 1:800 of birth Mental deficiency ,heart
defects . Round face Short digits Incurving of the fifth digit Female Trisomy 18
1:8000 of birth Mental deficiency Micrognathia ,low set ear Growth retardation Second and fifth digit overlapping the third and
fourth Short sternum Narrow pelvis Female with trisomy 13 1:25000 of birth Mental deficiency, CNS
malformation ,microphthal mia Bilateral cleft lip &palate Low set malformed ears Polydactyly Small omphalocoele
Young male with Klinefelter syndrome (XXY trisomy) 1:1080 of birth Presence of breasts Gynecomastia (excessive development of male mammary glands)
Small testes ,aspermatogenesis due to hyalinization of seminiferous tubules Less intelligent Structural chromosomal abnormalities A) Reciprocal translocation
B) Terminal deletion C) Ring chromosome D) Duplication E) Paracentric inversion F) Isochromosome
G) Robertsonian translocation Cri-du-chat syndrome Terminal deletion of the short arm end of the chromosome no. 5 Child has a weak catlike cry
Mental retardation ,microcephaly ,heart disease. Chondroplasia Due to a G to A transition mutation of the fibroplast growth factor receptor 3 gene on chromosome 4p Short limbs and fingers Normal length of the trunk
Bowed legs Relatively large head Depressed nasal bridge Prominent forehead Fragile X-syndrome
A) mentally retarded boy with long face and prominent ears B) his six years old sister mild learning disability, long face crossed-right eye Due to gene mutation
Fatal alcohol syndrome Due to high level of alcohol intake during early pregnancy Thin upper lip ,Flat nasal bridge , Short nose ,microcephaly Elongated and poorly formed philtrum (vertical groove in median part of upper lip)
Mental retardation Aminopterin-induced abnormalities Is an anti-metabolite drug A) meroanencephaly (partial absence of the brain)
B) intrauterine growth retardation, large head, small mandibles, deformed ears, clubhands and clubfoots Goiter Congenital enlargement of thyroid gland due to anti-thyroid drugs ingested by mother Cataract and glucoma
A) bilateral cataract caused by Rubella virus also have cardiac defect and deafness B) congenital glucoma caused by Rubella virus with enlarged corneal diameter A B First arch syndrome
Due to insufficient migration of neural crest cells into the first pharyngeal arch Defect in the cheek between the auricle and the mouth Hypoplasia of mandibles
Macostomia Sublingual thyroid mass Without evidence of functioning thyroid tissue Unilateral cleft lip and palate 1 : 1000 births Cleft involve the hard & soft region of palate
60-80% affected infant are males Types of cleft lip A , B) Unilateral cleft lip b) Is incomplete C,D) Bilateral cleft lip
Congenital anomalies of the face A) median cleft of the upper lip B) median cleft of the lower lip C) bilateral oblique facial cleft with bilateral cleft lip.(rare) D) macrostomia
E) single nostril and microstomia F) bifid nose and incomplete median cleft Cleft lip Type: External Region/Structure: Mouth / Jaw
Definition: Fissure of the upper lip A:Cont. B:Malformed B,C:Bilateral (rabbit) B A CC C
Cleft face Type: External Region/Structure: Face Definition: Fissure of the face and jaw Related Term: Prosoposchisis Cleft palate
Type: External Region/Structure: Mouth / Jaw Definition: Fissure of the palate 1:2500 birth, commen in females than males High-arched palate Type: External Region/Structure: Mouth / Jaw
Definition: A higher than normal palatal arch Agnathia Type: External Region/Structure: Mouth / Jaw Definition: Absence of the lower jaw (mandible) Related Term:
Agenesis, Aplastic Mandibular micrognathia Type: External Region/Structure: Mouth / Jaw Definition: Small lower jaw (mandible) Synonym or Related Term: Brachygnathia, Micromandible
A :Open eye ,B :Misshappen pinna ,C :Skin tag B C A Omphaloceole Result from a median defect of the abdominal muscles,fascia, and skin at the umbilicus
Herniation of intra-abdominal structure liver and intestine into the proximal end of the umbilical cord It is covered by a membrane composed of peritoneum and amnion Omphalocele
Type: External Region/Structure: Trunk Definition: Protrusion of intra-abdominal viscera into the umbilical cord with viscera contained in a thin translucent sac of peritoneum and amnion Notes: The condition may present with ruptured sac Related Term: Exomphalos Arrow: Attached Placenta Gastrochisis
The viscera protrude into the amniotic cavity Due to anterior wall (2-4 cm.) is split . More commen in male than female. Due to drugs &chemicals.
Horse-shoe kidney Fusions of the inferior poles of the kidneys while they were in the plevis Larger right kidney has bifid ureter 1:500 birth
Normal ascent is prevented Duplex kidney With 2 ureters and renal pelves Result from incomplete division of the metanephric diverticulum or ureteric bud Ectopia cordis
Cleft sternum Bilateral cleft lip Die in the first days of life from infection, cardiac failure and hypoxemia Extremely rare
Ectopia cordis Type: External Region/Structure: Trunk Definition: Heart displaced outside thoracic cavity due to failure of ventral closure Local edema
Type: External Region/Structure: General Definition: Localized accumulation of fluid Hemorrhage Type: External Region/Structure: General Definition: An accumulation of extravasated blood Forked Rib
2)Lamboid Suture 1 1 3)Coronal Suture 4) Frontal (metopic) Suture 2 3 Skeletal system abnormalities Acrania (partial absence of calvaria)
Meroanenchphaly (partial absence of the brain),ressult from failure of the cranial end of neural tube to close. Rachishisis (extensive cleft in the vertebral arches of the vertebral column) Myelochisis (severe anomly of spinal corde)
Scaphocephaly Long, narrow, wedge shaped skull due to craniosynostosis (premature closure of the sagittal suture More commen in male than in female. Acephaly Type: External
Region/Structure: Cranium Definition: Absence of the head Exencephaly Type: External Region/Structure: Cranium Definition: The brain protrudes outside the
skull due to absence of the cranial vault Notes: Erosion of brain tissue has not occurred as in Anencephaly Meningocele Type: External Region/Structure: Cranium Definition: Herniation of meninges through defect in skull Anasarca
Type: External Region/Structure: General Definition: Generalized edema Amelia and meromelia A) Quadruple amelia (comlete absence of the upper and lower limbs).
B, C) meromelia (partial absence) of the upper limb . caused by thalidomide. Various types of meromelia Partial absence of limbs (disturbance of growth of limb) A) absence of hands and most of
fore-arms B) absence of the digits C) absence of the hand D) absence of the fourth and fifth digits, syndactyly of the second and third digit
E) absence of third digit, cleft hand F) absence of second and third toes, syndactyly of fourth and fifth toes Limb anomaly A) brachydactyly B) hypoplasia of the thumb
C) polydactyly (fingers) D) polydactyly (toes) E) Partial duplication of the foot F) Partial duplication of the thumb
Polydactyly Showing partial duplication of the right foot & toes Supernumerary digits which is incompletely formed and lack of muscular development Meromelia
Limb reduction Caused by thalidomide ingested during critical period of limb development Syndactyly 2nd &3rd . 1:2200 birth.
More frequent in foot than in hand. It may be Cutaneous or Osseous. May be inherited Ectrodactyly Type: External Region/Structure: Paw /
Digit Definition: Absence of one or more digit(s) Notes: Expected skeletal alterations include absence of all phalanges in each affected digit Related Term: Agenesis, Aplastic, Oligodactyly Forelimb 5th digit absent. Limb hyperextension Type: External
Region/Structure: Limb Definition: The excessive extension or straightening of a limb or a joint A : Normal , B : Malformed A B
Sirenomelia Type: External Region/Structure: Limb Definition: Fusion of lower limbs Notes: May involve lower torso Related Term: Symelia Polydactyly
Type: External Region/Structure: Limb Definition: Usually seen as an outward bending of the limb Arrow:Omphalocele Thread-like tail Type: External Region/Structure: Tail Related Term: Filamentous, Filiform
Region/Structure: Tail Definition: Curved into nearly a full circle Related Term: Curly Hooked tail Type: External Region/Structure: Tail Definition: Approximately 180 degree bend or curve of the tail
Forelimb postaxial Open eye Type: External Region/Structure: Eye Definition: Partial or complete deficiency of the eyelid Notes: Eyeball usually visible
Related Term: Ablepharia Arrow : Exencephaly Cyclopia Type: External Region/Structure: Eye Definition: Single orbit; eye's) can be absent, completely or
incompletely fused Notes: Nose may be absent or appear as a frontonasal appendage (proboscis) above the orbit Synonym or Related Term: Monophthalmia, Synophthalmia Malpositioned pinna Type: External Region/Structure: Ear Synonym or Related
Term: Displaced, Ectopic, Low set Short trunk Type: External Region/Organ/ Structure: Trunk Conjoined twins
Type: External Region/Structure: General Definition: Monozygotic twins with variable incomplete separation into two during cleavage or early stages of embryogenesis Notes: Site and extent of fusion may be described Related Term: Double monster Thank you Dr.A.A.A.Gadallah
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