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Midgut malrotation

MedGen UID:
342335
Concept ID:
C1849706
Finding
HPO: HP:0005211

Conditions with this feature

Miller syndrome
MedGen UID:
120522
Concept ID:
C0265257
Disease or Syndrome
Miller syndrome, also known as postaxial acrofacial dysostosis (POADS), is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010).
Kilquist syndrome
MedGen UID:
1742639
Concept ID:
C5436756
Disease or Syndrome
Kilquist syndrome (KILQS) is an autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis (CF; 219700) (summary by Stodberg et al., 2020).

Professional guidelines

PubMed

Sherer DM, Sokolovski M, Dalloul M, Santoso P, Curcio J, Abulafia O
Am J Perinatol 2004 Jul;21(5):247-51. doi: 10.1055/s-2004-829869. PMID: 15232755
Kimura K, Loening-Baucke V
Am Fam Physician 2000 May 1;61(9):2791-8. PMID: 10821158

Recent clinical studies

Etiology

Wang J, Li B
Eur J Radiol 2023 Oct;167:111071. Epub 2023 Sep 1 doi: 10.1016/j.ejrad.2023.111071. PMID: 37666075
Huang L, Huang D, Wang H, Zhang X, Yu H, Yang P
J Paediatr Child Health 2020 Jul;56(7):1097-1100. Epub 2020 Feb 19 doi: 10.1111/jpc.14825. PMID: 32073210
Neville JJ, Gallagher J, Mitra A, Sheth H
World J Surg 2020 Jun;44(6):1771-1778. doi: 10.1007/s00268-020-05403-7. PMID: 32030442
Hmadeh H, Saliba C, Raka M, Farhat HA, Dabbous A, Diab S, Abbas L, Wehbe A
Am J Case Rep 2018 Nov 15;19:1362-1365. doi: 10.12659/AJCR.913039. PMID: 30429450Free PMC Article
Buranasiri SI, Baum S, Nusbaum M, Tumen H
Radiology 1973 Dec;109(3):555-6. doi: 10.1148/109.3.555. PMID: 4772164

Diagnosis

Mushtaq Z, Sarwar MZ, Rafi Y, Naqi SA
J Pak Med Assoc 2021 May;71(5):1483-1485. doi: 10.47391/JPMA.09-1108. PMID: 34091640
Zengin E, Turan A, Calapoğlu AS, Nalbant E, Altuntaş G
Ulus Travma Acil Cerrahi Derg 2018 Mar;24(2):178-180. doi: 10.5505/tjtes.2017.58726. PMID: 29569692
Sherer DM, Sokolovski M, Dalloul M, Santoso P, Curcio J, Abulafia O
Am J Perinatol 2004 Jul;21(5):247-51. doi: 10.1055/s-2004-829869. PMID: 15232755
Kanazawa T, Kasugai K, Miyata M, Miyashita M, Mizuno M, Nagase F, Hibino K, Muramatu W, Hayashi K, Aihara M, Yoshida T, Utsumi K, Nitta M
Intern Med 2000 Aug;39(8):626-31. PMID: 10939535
Bohrer SP
Br Med J 1968 May 18;2(5602):428. doi: 10.1136/bmj.2.5602.428. PMID: 5649009Free PMC Article

Therapy

Allan Z, Wong DJ, Sweeney T, Liu DS
ANZ J Surg 2022 Jul;92(7-8):1896-1898. Epub 2021 Nov 5 doi: 10.1111/ans.17362. PMID: 34738331
Tayyem R, Siddiqui T, Ali A
Obes Surg 2009 Dec;19(12):1716-8. doi: 10.1007/s11695-009-9878-7. PMID: 19847576
Uchida K, Joseph JM, Gapany C, Chardot C
J Pediatr Surg 2008 Oct;43(10):1932-4. doi: 10.1016/j.jpedsurg.2008.03.059. PMID: 18926236
Ben Salem D, Benslimane Y, Salve N, Cercueil JP, Verain C, Deschamps M, Trouilloud P
Acta Radiol 2002 May;43(3):312-4. doi: 10.1080/j.1600-0455.2002.430313.x. PMID: 12100329
Vricella LA, Barrett WL, Tannebaum IR
Surg Endosc 1999 Dec;13(12):1234-5. doi: 10.1007/pl00009628. PMID: 10594273

Prognosis

Moroi K, Watanabe K, Tabira Y, Iwanaga J, Yamashita A, Han A, Saga T, Yamaki KI
Kurume Med J 2023 Feb 6;67(4):193-199. Epub 2022 Dec 2 doi: 10.2739/kurumemedj.MS674005. PMID: 36464276
Huang L, Huang D, Wang H, Zhang X, Yu H, Yang P
J Paediatr Child Health 2020 Jul;56(7):1097-1100. Epub 2020 Feb 19 doi: 10.1111/jpc.14825. PMID: 32073210
Hoffman MA, Celli S, Ninkov P, Rolles K, Calne RY
J Pediatr Surg 1989 Oct;24(10):1020-2. doi: 10.1016/s0022-3468(89)80206-4. PMID: 2809946
Gaines PA, Saunders AJ, Drake D
Clin Radiol 1987 Jan;38(1):51-3. doi: 10.1016/s0009-9260(87)80401-4. PMID: 3545635
Buranasiri SI, Baum S, Nusbaum M, Tumen H
Radiology 1973 Dec;109(3):555-6. doi: 10.1148/109.3.555. PMID: 4772164

Clinical prediction guides

Wang J, Li B
Eur J Radiol 2023 Oct;167:111071. Epub 2023 Sep 1 doi: 10.1016/j.ejrad.2023.111071. PMID: 37666075
Di Buono G, Buscemi S, Galia M, Maienza E, Amato G, Bonventre G, Vella R, Saverino M, Grassedonio E, Romano G, Agrusa A
Eur J Med Res 2023 Feb 20;28(1):85. doi: 10.1186/s40001-023-01059-w. PMID: 36805741Free PMC Article
Huang L, Huang D, Wang H, Zhang X, Yu H, Yang P
J Paediatr Child Health 2020 Jul;56(7):1097-1100. Epub 2020 Feb 19 doi: 10.1111/jpc.14825. PMID: 32073210
Neville JJ, Gallagher J, Mitra A, Sheth H
World J Surg 2020 Jun;44(6):1771-1778. doi: 10.1007/s00268-020-05403-7. PMID: 32030442
Gaines PA, Saunders AJ, Drake D
Clin Radiol 1987 Jan;38(1):51-3. doi: 10.1016/s0009-9260(87)80401-4. PMID: 3545635

Recent systematic reviews

Di Buono G, Buscemi S, Galia M, Maienza E, Amato G, Bonventre G, Vella R, Saverino M, Grassedonio E, Romano G, Agrusa A
Eur J Med Res 2023 Feb 20;28(1):85. doi: 10.1186/s40001-023-01059-w. PMID: 36805741Free PMC Article
Green PA, Nicoara CD, Losty PD
J Pediatr Surg 2022 Apr;57(4):655-660. Epub 2021 Jun 18 doi: 10.1016/j.jpedsurg.2021.06.005. PMID: 34217510
Nguyen HN, Kulkarni M, Jose J, Sisson A, Brandt ML, Sammer MBK, Pammi M
Arch Dis Child 2021 Dec;106(12):1171-1178. Epub 2021 Apr 20 doi: 10.1136/archdischild-2020-321082. PMID: 33879472Free PMC Article
Neville JJ, Gallagher J, Mitra A, Sheth H
World J Surg 2020 Jun;44(6):1771-1778. doi: 10.1007/s00268-020-05403-7. PMID: 32030442

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