Cases reported "Abnormalities, Multiple"

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31/397. Antenatally diagnosed cloacal exstrophy variant with intravesical phallus in a twin pregnancy.

    We report a rare case of covered cloacal exstrophy variant with a hemiphallus trapped within partially closed bladder halves. The persistence of the cloacal membrane until at least 18 weeks' gestation, confirmed by antenatal ultrasound scanning, is discordant with existing theories of embryogenesis of cloacal exstrophy. The clinical presentation highlights the need for careful assessment, before and during surgery, to obtain a complete understanding of the anatomic defect before gender assignment and appropriate reconstructive efforts. A multispecialty approach and antenatal counseling are important, especially when only one fetus of twins has major birth defects.
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32/397. Congenital cystic adenomatoid malformation of the lung with an esophageal cyst: report of a case.

    The authors report the case of a 7-month-old girl found to have both congenital cystic adenomatoid malformation of the lung (CCAM) and esophageal cyst. She suffered repeated episodes of pneumonia and exhibited signs of respiratory distress on admission to our hospital. Chest radiography and magnetic resonance imaging (MRI) showed 2 different kinds of cystic lesions. Resection of the lower lobe of the right lung and excision of the posterior mediastinal cyst were performed. Histologic examination showed Stocker type I CCAM and esophageal cyst. Coexistence of both CCAM and esophageal cyst is extremely rare. The authors speculate that the pathologies of this case originated from a regional disturbance of common embryologic origin during 2 different phases of lung-bud foregut malformations.
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33/397. septo-optic dysplasia as a manifestation of valproic acid embryopathy.

    BACKGROUND: The use of valproic acid during pregnancy has been associated with adverse fetal outcomes, including major and minor congenital malformations, intrauterine growth retardation (IUGR), hyperbilirubinemia, hepatotoxicity, transient hyperglycemia, and fetal and neonatal distress. In addition, intrauterine exposure to valproic acid has been associated with an increased risk of central nervous system abnormalities, primarily neural tube defects. optic nerve hypoplasia has been reported in association with other prenatal anticonvulsant exposures, but the occurrence of septo-optic dysplasia as a manifestation of valproic acid embryopathy has not been reported previously. RESULTS: We report on a woman who received Depakote (valproic acid) throughout her pregnancy for the treatment of a seizure disorder. The patient presented with features typical of valproic acid embryopathy, including bitemporal narrowing, hypertelorism, short palpebral fissures, epicanthal folds, microphthalmia, a flat broad nasal bridge, small mouth, hypoplastic nails, mild clinodactyly, and camptodactyly. MRI showed hypoplasia of the optic chiasm and absence of the septum pellucidum. CONCLUSIONS: We report the first case of septo-optic dysplasia associated with maternal exposure to valproic acid throughout pregnancy. This case expands the clinical phenotype of valproate embryopathy.
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34/397. Multiple ipsilateral congenital diaphragmatic pathologies: rarities to consider.

    BACKGROUND: Bilaterality of congenital diaphragmatic pathologies is well documented in the English literature. Nevertheless, ipsilateral simultaneous congenital diaphragmatic pathologies, though rare, are worth revisiting to shed more light into their embryology and management. methods: A review of the literature for reported cases of multiple ipsilateral congenital diaphragmatic pathologies was performed. Their findings, management and outcomes were classified and reviewed, in addition to reporting and comparison with a new case from our medical center. RESULTS: Two patients were adult females with multiple defects in the right central tendon of the diaphragm. The remaining four were all pediatric cases. Two had double congenital hernial defects on the same side and two had the defect associated with ipsilateral diaphragmatic eventration. Our case is the third one with diaphragmatic eventration, but the first being associated with a posterolateral defect on the same side. Its presentation with acute rectal bleeding proved difficult to diagnose. CONCLUSION: There are various postulated theories concerning the pathogenesis of ipsilateral pathologies during embryologic development of the diaphragm. Management of asymptomatic congenital eventrations remains debatable. However, when symptoms become apparent, ipsilateral defects though rare, should be considered and prompt surgical management through a thoracotomy or laparotomy approach is recommended.
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35/397. Epigastric heteropagus twins--a report of four cases.

    Asymmetrical conjoined twinning is an extremely rare congenital anomaly constituting only 1%-2% of all conjoined twins. In epigastric heteropagus twins (EHT), the dependent portion (parasite) is smaller than the host (autosite). The embryopathy is related to incomplete cleavage of the embryo at 2 weeks of gestation. However, some form of ischaemic insult in early gestation leads to selective atrophy of the cranial part of one of the monozygous twins. We report our experience with four cases of EHT and a review of the literature with a discussion of possible embryopathy.
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36/397. Limb-body wall complex: a compound anomaly pattern in body-wall defects.

    Our presentation of four cases demonstrates the essential features of limb-body wall complex (LBWC), representing a compound anomaly pattern in body-wall defects. The diagnosis of this entity is based on two of the three following characteristics: (1) exencephaly/encephalocele and facial clefts; (2) thoraco- and/or abdominoschisis; and (3) limb defects. A definite association with internal anomalies and severe kyphoscoliosis makes a more distinct concept of the pathogenesis reasonable. Limb-body wall malformations result from a malfunction of the ectodermal placodes involving the early embryonic folding process. The poor prognosis of LBWC calls for early antenatal diagnosis.
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37/397. Transverse testicular ectopia with supernumerary vas deferens and cyst of the ejaculatory duct.

    A case of transverse testicular ectopia with supernumerary vas deferens and cyst of the ejaculatory duct is reported. The reports relevant to these malformations were reviewed and their embryologic etiology discussed.
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38/397. Two cases of pseudoduplication of the external genitalia.

    In two newborn boys an accessory rudimentary phallus and scrotal sacs were present on the surface of a midline perineal swelling. Both boys had an associated high anorectal anomaly (ARA), a small phallus, and a bifid scrotum with absence of the scrotal raphe. One also had penile torsion with hypospadias and an accessory anal dimple. During definitive surgery for the ARA in one patient, excision of the perineal soft-tissue mass and overlying duplicated penoscrotal tissue was performed. The embryogenesis of this condition is discussed.
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39/397. Hirschsprung's disease, associated rare congenital anomalies.

    OBJECTIVE: Hirschsprung's disease may be associated with a number of congenital anomalies of which Down's syndrome and intestinal atresias are commonly encountered. The study aimed to assess the impact of rare associated anomalies on the diagnosis and management of Hirschsprung's disease. methods: A retrospective review of the clinical presentation, diagnosis and outcome of thirty five consecutive newly diagnosed cases of Hirschsprung's disease encountered over two years was performed. RESULTS: Besides Down's syndrome (two), intestinal atresia (one) and pigmentary ocular defects (two), three rare anomalies (Occipital meningocele, Calcific meconium cyst with anal stenosis, Malrotation) were encountered in four of thirty five cases. The clinical features, radiologic anatomy and gross morphology of the bowel were unconventional and the diagnosis was supported by intraoperative acetylcholinesterase staining of biopsies. Though the diagnosis was relatively delayed in these cases, the outcome has been comparable to the rest. The dilemma in their diagnosis and management and their possible pathoembryology is discussed. CONCLUSION: awareness of such associations and a specific investigative protocol is imperative for timely diagnosis and minimal morbidity in complex presentations of Hirschsprung's disease.
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40/397. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

    Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia.
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