Cases reported "Abnormalities, Multiple"

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21/490. thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney.

    The TAR syndrome is an inherited disorder characterized by limb abnormalities, especially absent radii, and hypomegakaryocytic thrombocytopenia. Previous reports have included two infants with genitourinary abnormalities. We report a newborn with bilaterally absent radii and foreshortened ulnae, hypoplastic humeri, a left clubfoot, a ventricular septum defect, and persistent thrombocytopenia. This constellation of abnormalities is consistent with the TAR syndrome. In addition, he had a horseshoe kidney with parenchyma of normal appearance. This is the first report of horseshoe kidney in association with the TAR syndrome.
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22/490. New syndrome?: Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts.

    Recently we described a previously apparently undescribed autosomal recessive syndrome in two sib fetuses with situs inversus totalis, cystic dysplastic kidneys and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation, and oligohydramnios. This syndrome differs from that of Ivemark and related syndromes due to lack of liver involvement. After these two sibs, this consanguineous family had a third child and an early prenatal diagnosis of pancreatic and dysplastic renal cysts was made in the 19.5-week-old fetus. The last case supports the genetic hypothesis.
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23/490. prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.

    Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, who had undergone amniocentesis for polyhydramnios. The karyotype was normal but the amniotic fluid contained acetylcholinesterase. A targeted scan at 25 weeks' gestation did not find spina bifida, but polyhydramnios with a dilated stomach, and several other anomalies: echogenic particles in the amniotic fluid, a thin skin which closely adhered to the nasal bones, narrow nostrils, abnormal ears, fisted hands, malposition of both first toes, and kidney malformation. Despite no previous case in the family, it was thought that sonographic findings were suggestive of the PA-JEB syndrome. A fetal skin biopsy was carried out at 28 weeks' gestation. The ultrastructural examination of fetal skin displayed JEB. Genetic analysis detected a homozygous mutation in the gene encoding integrin alpha 6. Termination of pregnancy was carried out at 29 weeks' gestation. These results illustrate that in the case of a fetus not known to be at risk, diagnosis of PA-JEB can be achieved by ultrasound findings leading to fetal skin biopsy and ultrastructural examination of blistered epidermis. Some new sonographic signs should raise the possibility of significant cutaneous desquamation and blister formation in a fetus, especially when there is positive amniotic acetylcholinesterase coupled with elevated alpha-fetoprotein or suspected pyloric atresia.
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24/490. prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation.

    We describe the results of prenatal analyses and postnatal findings in a male fetus with a partial trisomy for the long arm and a small terminal monosomy for the short arm of chromosome 4 with the following karyotype: 46,XY,add(4)(p16.3).ish dup(4)(q26qter)(wcp4 , D4S2336x3,AFMb280xa5x2,4ptel-,WHCR-). G-banding did not identify the origin of the additional chromosomal segment, but this was achieved prenatally by application of RxFISH and whole chromosome painting probes. Subsequent FISH analysis with region-specific YAC clones was used to relate the phenotypic findings such as bilateral split hand formation, specific cardiac and kidney anomalies, microtia, and hypoplastic thorax more exactly to the partial trisomy of the segment 4q26-qter.
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25/490. A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits.

    We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus hyperplasia; cryptorchidism; generalized muscle hypotonia; and a distinctive facial appearance. The clinical course was marked by severe neurodevelopmental deficits combined with progressive respiratory decompensation leading to death at the age 6 months. magnetic resonance imaging (MRI) disclosed a generalized cerebral atrophy with a marked deficit of the white matter. Renal ultrasound and MRI showed markedly enlarged kidneys with multiple small cystic lesions, a pattern indistinguishable from polycystic kidney disease. The postmortem kidney biopsy revealed dysplastic changes, microcysts, and a focal nephrogenic rest, characteristic features of the Perlman syndrome. In children with fetal gigantism, renal abnormalities, and neurological deficits, Perlman syndrome should be considered and may be confirmed by kidney biopsy.
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keywords = kidney disease, kidney
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26/490. Delayed presentation of a congenital recto-vaginal fistula associated with a recto-sigmoid tubular duplication and spinal cord and vertebral anomalies.

    Tubular duplication of the recto-sigmoid colon is a rare entity. Associated anomalies including fistulae to the genitourinary tract may be found. A baby girl was found to have duplication of the recto-sigmoid colon, anomalies of sacral vertebra from S1 to S5, and solitary right kidney. The septum of this duplication was divided using staplers. Because of a history of stool coming from the vagina, a meticulous examination perioperatively was performed, but no fistula could be found. Further extensive investigation failed to show any fistula. At the age of 10 she was operated on for a tethered cord. At age 14, she experienced passage of a small amount of liquid stool per vaginum. A recto-vaginal fistula was found. Via a posterior sagittal incision, the fistula was closed by a transrectal approach. She remained asymptomatic for 16 months until the fistula recurred. Using a perineal approach, a very short fistula between the vagina and the rectum was closed. The closure was reinforced by a vaginal flap. Four months later, she remains without signs of recurrence.
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27/490. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

    We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families. Flexion deformities of the knees and hips with club feet and absent patellae were consistently observed and scrotal hypoplasia and cryptorchidism were present in all boys (6/6). Dysmorphic features included a coarse face, a large nose with a high nasal bridge, and microcephaly. Other features included renal anomalies (multicystic kidneys or hydronephrosis, 7/7), agenesis of the corpus callosum (4/7), swallowing difficulties, micrognathia (4/7), and pulmonary hypoplasia (3/7). Bilateral hypoplasia of the ischia and brachydactyly were also consistently observed (5/5). In two out of seven cases, prenatal ultrasound detection of microcephaly and renal anomalies led to termination of the pregnancy at 27 weeks. Three children died during the first years of life and the remaining two who survived exhibit severe developmental delay. High resolution cytogenetic studies performed on lymphocytes or fibroblasts or both were normal in all cases. recurrence in two families suggests an autosomal recessive mode of inheritance. We propose that this unusual association, similar to that observed in a 4 year old boy by Goldblatt et al, represents a new syndrome distinct from previously reported hypoplastic patella syndromes.
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28/490. Ectopic adrenals in a sirenomelic fetus.

    A sirenomelic malformation was diagnosed in a fetus from the first pregnancy of a 25-year-old woman, and it was aborted at the 24th week of gestation. The fetus represented a sympus monopus. The head, organs of the neck, the thorax, and the upper part of abdominal cavity were normally formed. The kidneys, the ureters, the urinary bladder and the urethra were not developed. Adrenals of discoid shape and normal size were present in the normal position. The large bowel ended blindly in the sigmoid colon. Both testes were found in their normal position in the pelvis. Two symmetrical structures, resembling ovaries in shape and colour, were found near the testes. Histological examination established that these two organs were accessory (aberrant) adrenals.
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29/490. focal nodular hyperplasia of the liver associated with portal vein agenesis: a morphological and immunohistochemical study of one case and review of the literature.

    Congenital absence of portal vein (CAPV) is a rare malformation. To our knowledge, sixteen cases are reported in western literature. All the cases are associated with other diseases, cardiac malformations (12/17 patients; 16 plus the present case) and hepatic neoplasms being the most frequent observations. We present the case of a girl with a complex malformative syndrome consisting of multicystic kidney dysplasia, CAPV and nodular tumor-like mass of the liver. angiography showed that the splenic vein and superior mesenteric vein joined to form a common trunk directly entering the inferior vena cava above the liver. A review of the CAPV cases of the literature and the clinical and pathological features of the hepatic lesion, classified as focal nodular hyperplasia (FNH), are extensively discussed.
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30/490. Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital anomalies (MCA) syndrome.

    Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital anomalies (MCA) syndrome: In this report we present the prenatal second trimester echographic diagnosis of laryngeal atresia in a male fetus with multiple associated congenital anomalies: oesophageal atresia, crossed fused ectopy of the right kidney, mild cutaneous syndactyly of fingers III-V and toes II-III, distinct facial appearance and single umbilical artery. Bilateral voluminous echogenic lungs were the major echographic diagnostic sign. The associated multiple congenital anomalies were not diagnostic for a distinct, recognizable multiple malformation syndrome.
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