Development and teratology of digestive system. Development of facial and cervical region, face clefts. • • • • •Anna Mac Gillavry •22.03.2021 •Primitive gut formation results from the lateral folding of the embrio •Foregut, midgut and hindgut •(Yolk sac, allantois) T.W. Sadler, Langman´s medical embryology, 14th edition T.W. Sadler, Langman´s medical embryology, 14th edition Esophagus • 4 weeks Obsah obrázku text Popis byl vytvořen automaticky T.W. Sadler, Langman´s medical embryology, 14th edition Stomach Obsah obrázku mapa Popis byl vytvořen automaticky https://www.drawittoknowit.com/course/embryology/glossary/developmental-process/rotation-of-the-sto mach T.W. Sadler, Langman´s medical embryology, 14th edition T.W. Sadler, Langman´s medical embryology, 14th edition K. Moor, Before we are born, 10th edition •Esophagus: • • - esophageal atresia and/or tracheoesophageal fistula • - esophageal stenosis • - congenital hiatal hernia • • • T.W. Sadler, Langman´s medical embryology, 14th edition •Stomach: •Pyloric stenosis (1 in 150 males, 1 in 750 females) – developes during fetal life, however, can develop as a result of postnatal exposure • •Liver - birth deffects are rare: •Accessory hepatic ducts •Gallbladder duplication •Extrahepatic biliary atresia (1/15000) •Intrahepatic biliary duct atresia/hypoplasia (1/100000) • •Pancreas: •Annular pankreas •Accessory spleens – in 10 % of population Duodenum: Duodenal stenosis/atresia – results from incomplete recanalization •Polyhydramnios •„Doble-Bubble“ Obsah obrázku text, obrázek Popis byl vytvořen automaticky K. Moor, Before we are born, 10th edition Midgut development. Physiological herniation. https://youtu.be/AscKR_cQExY 6th – 10th week •Body wall defects •Gastroschisis (3,5/10000) – most common in infants from white thin women under 20; usually not assotiated with chromosomal abnormalities and other severe deffects, thus the mortality rate is low (unless associated with volvulus) •X •Omphalocele (2,5/10000) – up to 25 % mortality rate • •Vitelline duct abnormalities •Meckel or ileal diverticulum – in 2 to 4 % of people, 3-5 times more prevalent in males (inflamation symptoms mimic those of appendicites) •Enterocystoma or vitelline cyst •Umbilical or vitelline fistula • • •Gut rotation defects •Left-sided colon – colon and cecum are the first to return from the umbilical cord cavity as the result of only 90° rotation •Reversed rotation if the intestinal loop •Duplications of intestinal loops and cysts • •Gut atresias and stenoses -Most occur in duodenum, fewest in the colon, equal number in jejunum and ileum; in 50 % of cases a region of bowel is missing completely, in 20 % cases the fibrous cord is present; stenoses represent only 5 % of cases •Apple peel atresia - 10 % of atresias: in the proximal jejunum, intestine is short, portion distal to the lesion coiled around remanant of mesenteries • Hindgut • Hindgut derivatives: -Left third of the transverse colon, descending colon, sigmoid colon, rectum, superior part of the anal canal -The epithelium of the urinary bladder and most of the urethra!!! K. Moor, Before we are born, 10th edition •Congenital megacolon •(Hirschsprung disease) – 1/5000, males are affected 4 times more often than females. • •Imperforate anus - 1/5000 more common in males than females • •Anorectal birth defects -High vs. Low (rectum end superior or inferior to the puborectalis muscle respectively) •Low: anal agenesis, with or without fistula • anal stenosis • membranous atresia of anus •High: anorectal agenesis, with or without • fistula (2/3 of anorectal defects) • rectal atresia • Obsah obrázku text Popis byl vytvořen automaticky K. Moor, Before we are born, 10th edition Development of the face K. Moor, Before we are born, 9th edition •Anterior cleft deformities •Lateral cleft lip (1/700, 65 % -male infants) •Cleft upper jaw •Cleft between the primary and the secondary palates • •Posterior cleft deformities •Cleft secondary palate (1/1500, 55 % female infants) •Cleft uvula T.W. Sadler, Langman´s medical embryology, 14th edition •Van der Woude syndrome – pits in the lower lip in 88 % of patients • •Oblique facial cleft • •Median cleft lip – incomplete merging of the two medial nasal prominences; different degrees of midline structures loss --------- holoprosencephaly – fusion of lateral ventricles, synophtalmia Neck region T.W. Sadler, Langman´s medical embryology, 14th edition Neck region – pharyngeal apparatus K. Moor, Before we are born, 9th edition K. Moor, Before we are born, 9th edition •Ectopic thymic and parathyroid tissue •Branchial fistulas: external and internal •Cervical cysts • •Craniofacial defects associated with neural crest cells: -Mandibulofacial dysostosis – Treacher Collins syndrome -Robin sequence -DiGeorge syndrome, DiGeorge anomaly, velocardiofacial syndrome etc. - deletion on 22q11.2 (1/4000) -Hemifacial microsomia (oculoauriculovertebral spectrum – Goldenhar syndrome)