Posted on Authorea 19 Feb 2021 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.161371897.76133900/v1 — This a preprint and has not been peer reviewed. Data may be preliminary. aa Alrawi Wafaa Congenital and Ectrodactyly Hernia with Diaphragmatic 13 Trisomy of Association Rare Introduction hernia diaphragmatic congenital CDH: Abbreviation: pathology. deformity. threatening limb life- of a form possessed hernia, rare also diaphragmatic a patient Keywords: ectrodactyly, congenital The with 13, ectrodactyly. trisomy 13 and 13 trisomy of trisomy of manifestation from unusual cases suffered who another few newborn the another of report one we Herein, reported had we 2020, In Abstract: None MAYOCLINIC Information; with Emirates Funding partnership Arab in United City Dhabi, Medical Abu Shahbout Hospital, Sheikh SSMC Pediatrics, of Department affiliations: Institutional Emirates. [email protected] Arab Email: United Dhabi, Abu SEHA, Hospital, SSMC Pediatrics, of Department Neonatologist, Alshorman, A Rawi Anas Al Lonikar, N S Wafaa Abhijeet Elmansoury, S Nabil Correspondence Abuobayda, N Hernia Maldar Ashraf Diaphragmatic D Rawi, Hasansaheb Congenital Al and Ectrodactyly N with Wafaa 13 Trisomy of report of Association we manifestation Herein, Rare unusual deformity. limb another of possessed pathology. form threatening also rare patient life- a The a ectrodactyly, hernia, ectrodactyly. with diaphragmatic and 13 congenital trisomy 13 13, of trisomy trisomy cases from few suffered the who of newborn one another reported had we 2020, In Abstract 2021 19, February 1 Alshorman b hb elhSrie Co Services Health Dhabi Abu 1 crdcyy rsm 3 ogntldahamtchri,slthn/pi-otmalformation split-hand/split-foot hernia, diaphragmatic congenital 13, trisomy ectrodactyly, n aashbMaldar Hasansaheb and , 1 srfAbuobayda Ashraf , 1 ai Elmansoury Nabil , 1 1 1 bietLonikar Abhijeet , 1 Anas , Posted on Authorea 19 Feb 2021 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.161371897.76133900/v1 — This a preprint and has not been peer reviewed. Data may be preliminary. rntlgntcdansso rsm ol aeadddcso-aigadalwdfrteceto fa of a creation Although the for anomaly. allowed an and as decision-making CDH aided left have detected would scan iso- trisomy antenatal an either an of diagnosis, be influence patient, diagnosis can may our genetic CDH It In with prenatal death. chromosomal associated of malformations, survival. anomalies structural cause Severe and trisomy major major treatment, disorders. as a with gene such be patients single abnormalities, can and/or in other and abnormalities, with finding infants associated in rare or pathology another anomaly have threatening lated hernia, there an life- Indeed, diaphragmatic is as CDH 13. congenital occurs trisomy 13. possessed with and infants also syndrome. feet, in patient 13 presentation and/or Our trisomy cases. rare hands a with reported the is few infants syndrome, of a in a possible only rays common of been central part and are be as the flexion feet, or also affecting entity polydactyly, the may isolated deformity of including Males a heels malformations, malformation. Ectrodactyly, prominent limb limb However, and and addition, fingers, the forehead), In capillary of with the defects, overlapping present of cardiac cryptorchidism. usually center congenital by infants the malformations, affected Affected on renal system, frequently trisomy nervous cells. (most malformed the central hypertelorism, abnormal hemangiomas of the palate, of location cleft of percentage lip, specific abnormalities cleft the the ears, microphthalmia, on microcephaly, as depend retardation, well aneuploidy, mental common as profound a 13, 13, chromosome trisomy in of of severity day and fourth extent his The on died and response no Discussion with deteriorated He failure, respiratory support. severe life. for inotropic oxide and nitric inhaled hypoxia, genetic and refractory by ventilation oscillator confirmed high-frequency was required 13 infant The trisomy non-disjunction corpus of diagnosis tricus- the 47,XY,+13). the deformed/calcified of by (karyotype and a confirmed testing hypogenesis and suspected, were was regurgitation and Trisomy hydronephrosis tricuspid appearance hypoplasia valve. mild and pid showed the cerebellar hydroureter results giving bilateral revealed echocardiography cleft and and results callosum, medial CDH ultrasonography deep Left Brain and feet, 1–6). radiography. (oligodactyly), rocker-bottom (Figures cryptorchidism, fingers claws bilateral four lobster micropenis, of with lip abdomen, cleft ectrodactyly scaphoid bilateral right-hand ear, microphthalmia, and left as such deformed malformations palate, declined 4 associated and was Parents multiple score revealed kidneys. Apgar minutes. examination enlarged His five Physical detected and at ventilated. ultrasonography echogenic, and 7 intubated fetal and bilateral, was minute gestation, and patient one weeks’ palate, the at 30 delivery, and after to lip as Immediately 29 gestation cleft weeks’ At amniocentesis. bilateral 36 CDH, parents. at left spontaneously nonconsanguineous delivered a of was child grams first 2,400 approximately the weighing newborn male A described infrequently been Presentation has associated Case ectrodactyly, thus with a hypertension, 13. as trisomy pulmonary (CDH), CDH, and with mortality. hernia hypoplasia ectrodactyly patients and diaphragmatic abdominal lung of in morbidity the congenital in case of allowing resulting risk another with diaphragm chest, significant the report presented the with in we also into defect Here, developmental herniate patient ectrodactyly the to 2020). group The to of viscera our al., due cases by et occurs 13. foot, three published which Rawi trisomy previously only malformation and/or Al serious one with knowledge, 2015; hand the our patient al., the including of et a to date, Feben best in to appearance 1994; the reported claw-like al., To been an lobster et have (1994). (Urioste 13 a by trisomy al. giving caused with et foot patients malformation Urioste in or months. by split-hand/split-foot hand few described a than the first ectrodactyly, prognosis less was of and only poor cleft is 13 the median patients to trisomy abnormal 13 owing between trisomy including abandoned of anomalies association survival is of The median range birth the wide at a anomalies, Resuscitation by lethal characterized associated malformations. is and brain 1960), al., and et heart (Patau complex syndrome, Patau or 13 Trisomy 2 Posted on Authorea 19 Feb 2021 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.161371897.76133900/v1 — This a preprint and has not been peer reviewed. Data may be preliminary. iue6: Figure 5: Figure 4: Figure 3: Figure 2: Figure 1: Figure syndrome. 13 A trisomy Legends (2015). in U. Figure Ectrodactyly Dilmen, (1994). P. Genetics . Aparicio, Medical . & of L., . Journal M. S., Martinez-Frias, S. M., microphthalmia. Oguz, Urioste, and N., hernia Uras, diaphragmatic E., congenital F. with Canpolat, , presenting O., anomaly case congenital Bozkurt, 13 Multiple H., (1960). trisomy K. P. Kutman, H. Wagner, S., & Sahin, L., autosome. S. extra Inhorn, E., an Rodr´ıguez, L. Therman, by & W., caused D. E., Smith, Bermejo, K., J., Patau, M. 13. Calvo, Patau trisomy A., of with Ayala, case infants doi:10.1002/1096-8628(20000814)93:4 a A., in in deficiencies R. hernia Limb Pablo, (2000). diaphragmatic de Congenital A., (2015). Villa, K. Mart´ınez-Fr´ıas, L., Y. Sarin M. Association. & Rare A., A Jindal, syndrome: P., trisomy. Kumar, of case A., unusual Jain, An (2015). A. Krause, & Health J., Kromberg, malformation. C., split-hand/split-foot of Feben, Pathogenesis (2003). G. H. Genetics trisomy Brunner, Molecular & in Human H., ectrodactyly Bokhoven, of van presentation H., P. Rare Duijf, (2000). L. Obaid, & A., Abuobayda, 13. K., Suleman Mustafa, Iftikhar W., Dr. Rawi, Al thank surgeons. also pediatrics We as study. support this their in References for participating Shehhi for Al family Muna patient’s Dr. the and to which grateful in a are We cases without for difficult establish support is to parental tests plan and Acknowledgments genetic detected treatment counseling antenatal been genetic a have performing offering defects creating and addition, of and congenital which In importance ectrodactyly multiple strategies the for treatment both malformation. highlight of manifestation specific presented limb features we more 13 13–associated that clinical Thus, known trisomy trisomy 13 diagnosis. the possible Trisomy unusual expand confirmed a with an findings as patient Our is ectrodactyly a 13. CDH including Trisomy of by with presented case 13 rarely trisomy rare very a are which reports CDH, study an in case poor This is CDH for prognosis as the karyotyping as Conclusion postnatal management by surgical combined of confirmed anomalies case. decision was microarray congenital the chromosomal multiple which deferred abnormal of diagnosis, result presence chromosomal This the complex 13. birth, trisomy a Upon suggested performed. CDH not with was it plan, treatment 26 ora fCiia Neonatology Clinical of Journal 263–265. , 9, 13 h ih adhsfu nesadde eilcleft medial deep and fingers four has hand right The hands claw-like lobster split Right feet bottom Rocker cryptorchidism Bilateral ears ears low-set malformed apparently and and palate, Malformed and lip cleft bilateral microphthalmia, Bilateral 61–62. , , 12 , 53 Lancet ora fNoaa Surgery Neonatal of Journal pcN ,R1R0 doi:10.1093/hmg/ddg090 R51–R60. 1, No Spec 9–9.doi:10.1002/ajmg.1320530422 390–392. , , , < 9 1 339::aid-ajmg15 143–145. , 9–9.doi:10.1016/s0140-6736(60)90676-0 790–793. , nutero in mrcnJunlo eia Genetics Medical of Journal American 3 > . 3.0.co;2-r , 4 20. , ot fia ora fChild of Journal African South eei Counseling Genetic , 93 339–341. , American Posted on Authorea 19 Feb 2021 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.161371897.76133900/v1 — This a preprint and has not been peer reviewed. 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