Clinical Genetics. Charles Williams, M.D. Division of Genetics and Metabolism UF Department of Pediatrics
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1 Clinical Genetics Charles Williams, M.D. Division of Genetics and Metabolism UF Department of Pediatrics August 9, 2013
2 Birth Defects: Mechanisms Normal development Deformation Disruption Dysplasia X Malformation X
3 Deformation Abnormal fetal position Diminished fetal movement
4 Disruption Amnion Disruption
5 Gastroschisis Disruption Usually a sporadic event Disruption of the omphalomesenteric artery Not associated with genetic syndromes 10-20% have associated anomalies Intestinal atresia
6 Dysplasia X Achondroplasia (FGFR3)
7 Malformation X cleft lip and palate (single) Trisomy 13 (multiple)
8 Multiple Malformations can be Part of: Syndrome Trisomy 13 Sequence Pierre Robin Association VACTERL
9 Down (trisomy 21) Syndrome Brushfield spots 1/800 newborns affected Advanced maternal age risk Precise mechanism is unknown Types 94%: full trisomy, nondisjunction 3%: mosaic trisomy 4%: translocation (e.g. 14/21)
10 Sequence: a single event leads to a single anomaly having a cascading effect. A Initial defect Genetic or Environmental B D E C F G Secondary defects
11 Small jaw upward positioning of tongue interference with palate closure
12 Pierre Robin Sequence Glossoptosis Micrognathia Cleft palate Feeding problems Airway obstruction 1/3: due to syndromes e.g., chromosome disorders and single gene defects 2/3: non-syndromic
13 Oligohydramnios Sequence Decreased amniotic fluid Fetal constraint Arthrogryposis, loose skin, facial changes: Potter s facies Decreased lung fluid Pulmonary hypoplasia Respiratory failure
14 Jugular Lymphatic Obstruction Sequence Jugular lymph duct obstruction Nuchal swelling (cystic hygroma) Webbed neck
15 Urethral Obstruction Sequence (Prune Belly Syndrome) Urethral obstruction Bladder distension Hydroureter, renal dysplasia Abdominal muscle deficiency Excess abdominal skin
16 Holoprosencephaly Sequence Moore and Persaud, The Developing Human, 6th ed, 1998
17 Holoprosencephaly Sequence Embryonic midface/neural tissues are abnormal Single upper incisor Cleft lip and palate Midface Malformations
18 Alobar, complete type Lobar type, fused thalamus
19 Holoprosencephaly 1/16,000 incidence Alobar, semi-lobar, lobar types Etiologic heterogeneity Many genes: SHH, ZIC2, SIX3, TGIF, PTCH, TMEM1, others Trisomy 13 and other chromosomes Teratogens (e.g., maternal diabetes) Infections
20 Associations Unknown cause(s) and pathogenesis L M N O Multiple malformations that significantly associate with each other
21 VACTERL Association (VATER, VATERR) Vertebral: 70% Anal atresia: 50% Cardiac: VSD most common Tracheo-Esophageal fistula: 70% Renal: 50% Limb: 50% Radial dysplasia, preaxial polydactyly, syndactytyl Sporadic occurrence
22 VACTERL Association Hypothesis Unknown cause L M N O Blastocyst Stage Multiple Malformations
23 Referrals to Clinical Genetics Facial dysmorphism 2-3 toe syndactyly
24 Facial Traits Hyper and hypotelorism Wide and short palpebral fissures Down-slanting palpebral fissures Smooth or flat philtrum
25 Hypertelorism Hypotelorism
26 Wide palpebral fissures Short palpebral fissures
27 Down-slanting palpebral fissures Up-slanting palpebral fissures
28 Variations in philtrum development
29 Minor Congenital Anomaly One is present in about 13% of newborns 1% have two unrelated minor anomalies 1/2000 have three Examples Sacral dimple/sinus Accessory nipples Postaxial polydactyly Umbilical hernia Single palmar crease 2-3 syndactyly/underriding toe Nevus flammeus Mongolian spot Ear sinuses and tags Cafe-au-lait, ash leaf spot
30 Ear tag Ear pit Café-au-lait spot Accessory nipple 2-3 toe syndactyly Polydactyly Underlying toe Single palm crease Sacral dimple Umbilical hernia
31 Examples of conditions with facial dysmorphism: 1. Treacher Collins syndrome 2. Fetal Alcohol Syndrome
32 Treacher Collins Syndrome Micrognathia Dysmorphic, small ears Atresia of middle-ear ossicles, conductive hearing loss Down-slanting palpebral fissures, lower eyelid coloboma Normal CNS Gene: TCOF1 (5q32)
33 Note on Language Not recommended: Funny looking kid Abnormal face Mentally retarded Recommended: Noteworthy facial appearance Not a typical face Intellectual deficiency Dysmorphic-appearing child, ±
34 Fetal Alcohol Syndrome Sampson et al., Teratology, 1997 Characteristic face short palpebral fissures flat philtrum, thin upper lip mid-face hypoplasia
35 The End
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