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PubMed1996

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11).

Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant alleles. Here we present the findings in a child with paternal UPD14. Ultrasound evaluation was performed at 30 weeks of gestation because of abnormally large uterine size. Pertinent ultrasound findings included polyhydramnios, short limbs, abnormal position of hands, small thorax, and nonvisualization of the fetal stomach. Post-natally the infant was found to have a low birth weight, short birth length, contractures, short limbs, and a small thorax with upslanting ribs. Assisted ventilation and gastrostomy were required. At age 6 months, the infant required hospitalization for hypertrophic cardiomyopathy which responded to Atenolol. Initial cytogenetic studies demonstrated an apparently balanced de novo Robertsonian translocation involving chromosomes 14 and a karyotype designation of 45,XY,t(14q14q). No indication of mosaicism for trisomy 14 was observed in metaphase spreads prepared from peripheral blood lymphocytes or skin-derived fibroblasts. C-band and fluorescence in situ hybridization results demonstrated that the chromosome was dicentric. DNA analyses showed paternal uniparental isodisomy for chromosome 14. Based on the cytogenetic and DNA results a final karyotype designation of 45,XY,idic(14)(p11) was assigned to this infant with paternal isodisomy of chromosome 14.

Cardiomyopathy, Hypertrophic↗
PubMed1997

Restrictive dermopathy: report and review.

Restrictive dermopathy (RD) is a lethal autosomal recessive genodermatosis (MIM No. 275210) in which tautness of the skin causes fetal akinesia or hypokinesia deformation sequence (FADS). Polyhydramnios with reduced fetal movements is followed by premature delivery at around 31 weeks gestation. Manifestations include a tightly adherent, thin, translucent skin with prominent vessels, typical facial changes, generalized joint contractures, enlarged fontanelles, dysplasia of clavicles, respiratory insufficiency, and an enlarged placenta with short umbilical cord. Histologic abnormalities of the skin include thin dermis with paucity and hypoplasia of the appendages and abnormally arranged collagen bundles. Elastic fibers are nearly missing. The subcutaneous fat is slightly increased. These skin findings usually appear after 22 or 24 weeks of gestation, which is why prenatal diagnosis with skin biopsy may fail. This disease is easily differentiated from other congenital FADS, such as Pena-Shokeir syndrome, COFS syndrome, Parana hard-skin syndrome, etc. We report on an affected boy of consanguineous parents and 30 previous cases are reviewed.

Calcification, Physiologic↗
PubMed1997

Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.

We report on two sibs with a rare lethal chondrodysplasia born to a non-consanguineous couple. The hallmarks of this affection, also called Blomstrand chondrodysplasia, are short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and a remarkable advance in skeletal maturation. We describe the radiologic and pathologic manifestations in these two cases. This recurrence affecting a male and a female fetus, born to the same couple, suggests autosomal recessive inheritance.

Adult↗
PubMed1999

Analysis of deformations in 26,810 consecutive infants with congenital defects.

Here we present the analysis of deformations observed in a series of 26,810 consecutive infants with congenital defects. We observed that 3.88% of these infants had deformations, for a prevalence figure of 0.07% live-born infants. From the present study we can conclude that there are three different types of deformation sequences: one with polyhydramnios, thin skin without dermal ridges, hypotonia, and multiple deformations (hypokinesia sequence), which is most often due to intrinsic problems; another with oligohydramnios, redundant thick skin, and multiple deformations, which can be produced by intrinsic or extrinsic factors; and the third, with normal amniotic fluid volume, which is due to compression of different causes. Deformations of extrinsic cause are more frequently isolated defects and have a better prognosis, while deformations of intrinsic origin are more frequently associated with other congenital anomalies and, generally, have a poor prognosis.

Congenital Abnormalities↗
PubMed2000

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.

Abnormalities, Multiple↗
PubMed1996

Diabetes in pregnancy in Pakistani women: prevalence and complications in an indigenous south Asian community.

The aim of this study was to determine the prevalence and complications as well as to correlate maternal and fetal outcome with glycaemic control, in a community of Pakistani women. This was a retrospective study of 6830 deliveries over a 5-year period in a tertiary care hospital in Karachi. Either a 75 g glucose tolerance test or a screening 50 g glucose challenge was administered depending on risk factors for Gestational Diabetes Mellitus (GDM). Case records of deliveries during this period were analysed for presence of GDM or pre-existing diabetes; glycaemic control and complications were ascertained for those with diabetes. During this period 267 (3.9%) of the 6380 deliveries were identified as diabetic pregnancies. Of these 223 (3.3%) had GDM and 44 (0.6%) women had pre-existing diabetes mellitus. Overall maternal complications were high; pre-eclampsia (19%), polyhydramnios (4.6%), and threatened abortion (3.4%). Fetal complications of macrosomia (13.1%), intrauterine growth retardation (7.1%), intrauterine deaths (5.3%) were noted. Complications were higher in poorly controlled groups. We conclude that the prevalence of GDM in Pakistani women in our study was comparable to their Western counterparts but complication rates were higher, possibly due to poorer glycaemic control.

Adult↗
PubMed1996

Prenatal diagnosis of fetal abdominal wall defects: a retrospective analysis of 44 cases.

Forty-four fetal abdominal wall defects, consisting of 31 omphalocoeles, 11 cases of gastroschisis, and two body stalk anomalies (which are excluded from further analysis), were diagnosed at 12-39 weeks (median 26 weeks) of gestation. In 10/31 (32 per cent) cases of omphalocoele and in 4/11 (36 per cent) cases of gastroschisis, multiple congenital anomalies were diagnosed. A normal amount of amniotic fluid was present in 39 cases; in three cases of omphalocoele an abnormal amount of amniotic fluid (polyhydramnios, n = 2; oligohydramnios, n = 1) was seen. Prenatally, intrauterine growth retardation (IUGR) was diagnosed in each type of anomaly only once, although the birth weight was below the tenth centile in 23 per cent of omphalocoeles and in 36 per cent of cases of gastroschisis. An abnormal prenatal karyotpye was established in 5/25 (20 per cent) cases of omphalocoele versus none in the gastroschisis group. In 36 cases an expectant obstetric management was followed, and in six cases of omphalocoele the pregnancies were terminated because of severe multiple anomalies (n = 3) or an abnormal prenatal karyotype (n = 3). The preterm delivery rate (excluding terminations) was 12/25 (48 per cent) in the omphalocoele subgroup versus 8/11 (73 per cent) in the gastroschisis subgroup. The Caesarean section rate was almost identical (19 versus 18 per cent) in both subgroups; the majority (n = 5) were performed to protect the abdominal wall defect. The overall survival rate was 39 per cent in the omphalocoele group; in all surviving infants this was the sole congenital anomaly and in each instance there was a normal karyotype. In the gastroschisis group, 8/11 (72 per cent) infants survived, of which two children also displayed unilateral hydronephrosis.

Abdominal Muscles↗
PubMed1996

Structural chromosome anomalies in congenital diaphragmatic hernia.

In order to determine the outcome and associated chromosomal and structural anomalies in fetuses diagnosed in utero as having a congenital diaphragmatic hernia, we reviewed 48 consecutive cases referred to our regional Fetal Diagnostic Unit between 1988 and 1995. All babies were delivered in units with appropriate neonatal resuscitation facilities. Thirteen babies [34 per cent of those tested, confidence interval (CI) 19-49 per cent] had karyotypic abnormalities. Three had trisomies but the other nine had more complex karyotypic abnormalities including translocations, deletions, and marker chromosomes. Twenty-one fetuses (44 per cent, CI 30-58 per cent) had additional ultrasound abnormalities which affected the heart in ten cases (21 per cent). Overall, 13 babies survived (27 per cent, CI 14-40 per cent). In babies with normal chromosomes and no additional structural abnormalities the survival rate was 50 per cent (CI 25-75 per cent). Poor outcome was not predicted by early gestation at diagnosis, the hernial contents, or the presence of polyhydramnios. We conclude that parents should be counselled about prognosis with information derived from series of prenatally diagnosed diaphragmatic hernias. The investigations offered should include a detailed ultrasound examination, particularly of the heart, and karyotyping by fetal blood sampling.

Adolescent↗
PubMed1997

Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization.

We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in situ hybridization (FISH), but not by conventional cytogenetic analysis. FISH using a cocktail of cosmids (c197-2, c197-4, c197-9) from the Miller-Dieker critical region showed a deletion of 17p13.3 in one homologue of chromosome 17. Additional FISH studies revealed a subtle 17p;20q translocation in the father, his sister, and the paternal grandmother. Hence, our patient is a carrier of an unbalanced 17;20 translocation resulting in a partial deletion of 17p and a partial trisomy 20q. Whenever kidney anomalies and dilated occipital horns are observed together with polyhydramnios during prenatal ultrasound examination, the possibility of Miller-Dieker syndrome should be suspected. In such cases, prenatal and/or postnatal chromosome studies should also include FISH analysis with the appropriate probes.

Abnormalities, Multiple↗
PubMed1997

Prenatal diagnosis of cephalothoracopagus janiceps monosymmetros.

We report a case of cephalothoracopagus janiceps monosymmetros that was diagnosed prenatally by ultrasound at 23 weeks' gestation. Obstetric ultrasound demonstrated conjoined female twins with a single fused cranial vault irregular in contour, duplicated cerebra, one face, two eyeballs, a fused thorax, two hearts, two thoracic spines, eight limbs, and polyhydramnios. The pregnancy was terminated and all the features described prenatally were observed at necropsy. The asymmetrical fused faces consisted of a ventral humanoid face with micrognathia, microphthalmia, low-set ears, a normal nose, and an opposite reduced face with partial facial features of a central narrowed fissure and paired synotic ears. The conjoined twins had fused umbilical cords, omphalocoele, and a single oesophagus, stomach, and duodenum, but duplicated pancreases, spleens, and central nervous, cardiopulmonary, hepatic, and genito-urinary systems. The common gastrointestinal tract bifurcated at the level of the jejunum. Our case documents a very uncommon variety of asymmetrical cephalothoracopagus janiceps with duplicated central nervous systems.

Adult↗
PubMed1997

Prenatal ultrasonographic and molecular diagnosis of Apert syndrome.

Apert syndrome is a rare craniosynostosis syndrome with significant bilateral syndactyly of the hands and feet. Usually it is detected by ultrasonography during the third trimester unless there is a family history. We present an interesting sporadic case with features consistent with Apert syndrome detected as early as the first trimester. A first-trimester ultrasound evaluation prior to chorionic villus sampling (CVS) for maternal age 41 was within normal limits except for the suggestion of a 'mitten-like' hand and proximally placed thumb. Mid-trimester ultrasound was not diagnostic; however, following the development of polyhydramnios in the third trimester, the evaluation of the digits and facial features were strongly suggestive of Apert syndrome. Amniocentesis was performed and a molecular diagnosis of Apert syndrome was made and confirmed on cord blood.

Acrocephalosyndactylia↗
PubMed1999

Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.

Thanatophoric dysplasia (TD) is the most frequent form of neonatal lethal skeletal dysplasia. Recently. mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that cause two subtypes of this disorder, type I (TDI) and type II (TDII), have been identified. This discovery has now made it possible to make a definite diagnosis of TD by molecular methods. To date, prenatal diagnosis of TD has been accomplished by ultrasonography in the second trimester. However, it is not always possible to distinguish TD fetuses it utero from the other osteochondrodysplasias by ultrasonography or radiography. We report on the prenatal diagnosis of a TD fetus, showing severe shortness of limbs and polyhydramnios, by identification of a mutation in the FGFR3 gene. Genomic DNA was isolated from the amniotic fluid and then subjected to PCR amplification. The common TDI mutation, C-->T transition at nucleotide 742 in the FGFR3 gene, was identified using restriction enzyme analysis. This information was critical in obstetric management decisions later in pregnancy. However, although the mutation responsible for TDI was detected previously, we noticed some inconsistencies in the published PCR results and have proposed a correction.

Adult↗
PubMed1997

Open neural tube defects: immunocytochemical demonstration of neuroepithelial cells in amniotic fluid.

Cytologic evaluation of second trimester amniotic fluid (AF) is a rapid, inexpensive adjunct to prenatal diagnosis of open neural tube defects (ONTDs). Our goal was to determine whether the neural-appearing cells and/or large foamy macrophages in the AF of anencephalics are indeed of neural and/or glial origin. In two second trimester patients with elevated serum alpha-fetoprotein (AFP) and polyhydramnios, fetal sonogram studies showed anencephaly; amniocentesis was performed for AF-AFP, cytogenetic, and cytologic studies. AF sediment smears were initially Papanicolaou-stained; next, the same smears were immunoperoxidase (IP)-stained for glial fibrillary acidic protein (GFAP). If GFAP negative, slides were restained for synaptophysin (SYN) and neuron-specific enolase (NSE). Both AFs contained small neural-appearing cells (5-10 microns) singly and in clusters, with dense, round, homogeneous nuclei, an occasional nucleolus, and scant cytoplasmic rim. These were GFAP negative and SYN and NSE positive; the large vacuolated, lipid-laden macrophages (20-40 microns) were negative for all three IP stains. In conclusion, positive IP staining for SYN and NSE supports the morphologic impression that small dark cells in AF are of neural origin, while negative IP staining of large foamy macrophages suggests nonneural, nonglial origin.

Amniotic Fluid↗
PubMed2002

Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.

Myotonic dystrophy type 1 (DM1) is an autosomal dominant trinucleotide repeat disorder that shows anticipation. The mildest manifestations of the DM gene are usually noted in individuals with the smallest repeat sizes, while congenital myotonic dystrophy (CDM) is the most common clinical outcome of the larger expansions. For many years, it was thought that CDM could only be maternally transmitted. However, in the last few years, cases of paternal transmission of CDM have been described. We report a child with the CDM phenotype and 1, 800 CTG repeats born to an asymptomatic father with 65 repeats and compare this case to the four currently in the literature. We note that polyhydramnios was present in the majority of cases and that all fathers whose status was known had small repeat sizes and/or were asymptomatic at the time of their child's birth. Although it may be unusual, the possibility of the paternal transmission of CDM should be mentioned when counseling families with DM. The men who are at highest risk may be those who have small repeats sizes and are asymptomatic.

Adult↗
PubMed2002

De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly.

Interstitial duplications of chromosomal region 1q are rarely seen. We report the first prenatal diagnosis of pure partial trisomy 1q. The fetus was karyotyped for polyhydramnios, micrognathia, and flexion of fingers of both hands. Conventional and molecular cytogenetics showed a de novo direct duplication of the chromosomal region 1q23.1q31.1 leading to a partial trisomy 1q. At autopsy, the fetus showed Pierre Robin sequence (PRS) and camptodactyly. The main histological finding was a decreased number of motoneurons with apoptotic features in the anterior horn of the spinal cord. A literature review and our observations suggest that genetic material mapping to chromosome 1q25 could be responsible for PRS with distal arthrogryposis when this is in triple dose.

Chromosome Aberrations↗
PubMed1981

Clinicopathological conference: a newborn monozygotic twin with abnormal facial appearance and respiratory insufficiency.

The second of twins males expired of respiratory insufficiency shortly after birth. Unusual facial appearance included prominent forehead, flat nasal bridge, widely separated inner canthi, downward slanting eyes with narrow palpebral fissures, epicanthic folds, small mouth and micrognathia, and apparently low-set ears; there was also cryptorchidism bilaterally and a simian crease bilaterally. The pregnancy of the 19-year-old black woman was not unusual, but polyhydramnios accompanied the delivery of this twin. The twin placentae were diamniotic and monochorionic, one being slightly immature with a two-vessel cord. We interpreted the karyotype as 46,XY,del(10) (p11-15): The brother and parents were normal. The dysmorphic features of this and three previously reported cases of 10p- do not permit definition of a syndrome. These are apparently the first monozygous twins presenting discordance of chromosomal structure; previously reported chromosomal discordance in monozygous twins involved numerical abnormality. Considering that the mechanism monozygous twinning is not understood, we note that the occurrence of both twinning and a structural aberration in one of the twins suggests the possibility of a common cause.

Abnormalities, Multiple↗
PubMed1983

Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.

Two siblings, one a male pseudohermaphrodite and the other female, died on the first day of life. In both instances pregnancy was complicated by polyhydramnios. At autopsy each was found to have multiple abnormalities, some concordant, others discordant. The concordant ones were hypoplastic left-heart complex, absent pulmonary lobation, polydactyly, bilateral talipes, and, on microscopic examination, some large atypical cells in the pancreatic islets. Chromosome cultures failed to grow. As far as is known parents were unrelated. Autosomal recessive inheritance is considered a possible cause, and the infants are thought to have the most severe form of the so-called Smith-Lemli-Opitz (RSH) Syndrome.

Abnormalities, Multiple↗
PubMed1985

Prenatal diagnosis and management of congenital heart defect: significance of associated fetal anomalies and prenatal chromosome studies.

A fetal cardiac defect was found prenatally by ultrasound in 13 of 230 women (5.6%) with a suspected fetal anomaly. Pregnancy duration varied between 17 and 39 weeks (mean 28 weeks). The reasons for referral of the 13 patients were: suspected fetal structural defect (n = 4), oligo- or polyhydramnios (n = 2), severe fetal growth retardation (n = 1), fetal cardiac arrhythmia (n = 1), or a combination thereof (n = 5). Abnormal chromosomes were found in 5 out of 13 fetuses (38%)-ie, four through prenatal and one through postnatal analysis. The present study demonstrates that fetal cardiac structural anomalies often are diagnosed in combination with ultrasonically established associated abnormality. Cytogenetic analysis of amniotic cells greatly improves diagnosis and obstetric management, especially when the cardiac defect per se is considered amenable to surgical treatment and other major structural defects have been ruled out.

Amniocentesis↗