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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Other syndromes with a similar malformation pattern: Aase syndrome – developmental delay, triphalangeal thumbs, radial hypoplasia, hypoplastic anaemia, hypertelorism, retinopathy, cleft palate, short, webbed neck, parietal foramina and scoliosis. Blackfan Diamond syndrome: may be the same as Aase syndrome. Acrofacial dysostosis type Rodriguez: preaxial and postaxial limb deficiencies, shoulder and pelvic girdle hypoplasia, cardiac and central nervous system malformations, early lethality. Amniotic bands/disruption sequence: congenital ring constrictions or amputation of digits and limbs, talipes, multiple craniofacial, visceral and body wall defects, which include facial clefts, hydrocephalus, exencephaly, acrania, encephalocoele. Limb-bodywall complex: comprises a variable combination of lateral body wall defects, limb reduction defects, craniofacial defects, abnormal genitalia, anal atresia and renal defects. Constrictive amniotic bands, adhesions and umbilical cord abnormalities are almost always present. Pathogenesis should include early amnion rupture, vascular disruption, and early embryonic maldevelopment. Cornelia de Lange syndrome (p. 454); DK phocomelia (p. 519); trisomy18 (p. 586). Chromosome 13q deletion: radial ray anomalies with midline CNS and cardiac abnormalities. Dysmorphic features include trigonocephaly, micrognathia, broad nasal bridge, coloboma. Fetal valproate syndrome: a distinctive dysmorphic syndrome with brachycephaly, a high forehead, shallow orbits, prominent eyes, thin eyebrows and an unusual fold of skin below the lower eyelid. The mouth is small, the upper lip long and thin and the lower lip prominent. Limb abnormalities can include preaxial or postaxial polydactyly and radial defects. Fryns syndrome-acral defects: polyhydramnios with normal fetal growth; coarse face, a broad flat nasal bridge; a large nose anteriorly; short upper lip; small jaw; cleft lip and palate and poorly shaped auricles with attached ear lobes. The distal phalanges are hypoplastic and the nails rudimentary and dysplastic. Internally, diaphragmatic defects and secondary lung hypoplasia may be present. Hemifacial microsomia (p. 424); MURCS association: uterine aplasia/hypoplasia, renal agenesis/ectopia, abnormal cervical or upper thoracic vertebrae, abnormal ribs, Sprengel shoulder, upper limb abnormalities and deafness. Poland syndrome: there is usually unilateral shortening, predominantly of middle phalanges of the digits with cutaneous syndactyly and sometimes distal symphalangism. The thumb is least severely affected. There is ipsilateral absence of one or more portions of pectoralis major (usually the sternal head). Ipsilateral rib defects and absence of the breast or nipple may also occur. Roberts syndrome (p. 467); XK-aprosencephaly: absence of telencephalic or diencephalic structures, radial defects, congenital heart defect and occasionally anal atresia. Facial abnormalities range from hypotelorism to complete absence of all ocular and nasal structures.
Managing respiratory complications in infants and newborns with congenital diaphragmatic hernia
Published in Expert Opinion on Orphan Drugs, 2020
Sandeep Shetty, Fahad M. S. Arattu Thodika, Anne Greenough
CDH can present in isolation or associated with other congenital anomalies [9]. The incidence of associated anomalies ranges from 10%-40% [10]. The most common associated anomaly is congenital heart disease with an incidence ranging from 10% to 35% [11]. The frequently associated chromosomal anomalies include trisomies 18, 13, and 21 [12]. The other noticeable genetic syndromes associated with CDH are Fryns syndrome and Pallister-Killian Syndrome [13]. The presence of major congenital anomalies is an independent predictor of survival and is associated with grave prognosis [13]. A single ventricle or total mixing lesions are associated with a lower survival rate compared to duct dependent lesions or non-mixing lesions [14].
Eye and ocular adnexa manifestations of MED12-related disorders
Published in Ophthalmic Genetics, 2022
Arth Shah, Monika Bapna, Hind Al-Saif, Rachel Li, Natario L. Couser
Our systematic review of the published cases to date revealed 18 articles describing 60 reported cases. Including our reported patient, this brings the total number of cases to 61. Within these 61 cases, there were 4 cases of Ohdo syndrome, 15 cases of FG syndrome, 4 with Lujan-Fryns syndrome, and 38 with a de novo MED12 variants (Table 3). Only individuals with a molecular diagnosis were included in our analysis. To note, one patient from the study conducted by Lesca et al. did not obtain molecular confirmation therefore was excluded from our analysis, however,a clinical suspicion of a MED12 related disorder was suspected. Of these, all 4 of the Ohdo syndrome cases, all 4 of the Lujan-Fryns cases, 27 of the de novo MED12 mutation cases, and 14 of the FG syndrome cases had reported ophthalmic abnormalities (n = 49). FG syndrome is classically seen with the p.R961W MED12 variant (17). Ohdo syndrome has four reported mutations at c. 3443 G > A (p.Arg1148His), c. 3493 T > C (p.Ser1165Pro), c. 4147 G > A (p.Ala1383Thr), and c. 5185 C > A (p.His1729Asn) (6,20). And Lujan-Fryns syndrome has a known missense mutation at c. 3020A>G (p.Q1289R) (14). Recently, novel MED12 mutations that have distinct novel phenotypic features have been discovered and attributed to de novo variants, with at least 35 MED12 de novo variants reported (9,21). All MED12 genetic variants are X-linked recessive. Although carrier females are usually unaffected, there have been cases where pathogenic variants in MED12 have caused neurodevelopmental disorders in females (n = 18) (3,8). Of these 18 females, 50% (n = 9) of them had ophthalmological abnormalities.