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PubMed1996

Longitudinal epiphyseal bracket: associated foot deformities with implications for treatment.

The longitudinal epiphyseal bracket is a rare ossification defect of bones of the hands and feet and results in an abnormal epiphysis that is C-shaped, longitudinally oriented, and vertically extends into the diaphysis. The longitudinal epiphyseal bracket may exist as an isolated deformity, but is commonly associated with digital deformities such as polydactyly, duplicated digits, congenital hallux varus, and clinodactyly. Five case histories of children with the longitudinal epiphyseal bracket in different bones of the foot are described with three distinct clinical presentations. The development of the longitudinal epiphyseal bracket and implications for treatment are considered.

Adolescent↗
PubMed1986

Utility of a screening examination of the fetal extremities during obstetrical sonography.

The hands, feet, and long bones of the extremities were visualized and an image of the femur was obtained as part of a brief fetal anatomy survey during approximately 6,700 low-risk and high-risk obstetric sonograms. This examination identified four fetuses with five instances of isolated extremity abnormalities and nine fetuses with ten instances of generalized extremity abnormalities. Isolated abnormalities included malformation or complete or partial absence of an extremity. Generalized abnormalities included fused hands and feet, polydactyly, phocomelia, hyperechoic muscle with contractures, and several varieties of dwarfism. Most fetuses had other structural abnormalities as well and two had an abnormal family history. The sensitivity of the fetal anatomy survey for the detection of extremity malformations would not have been changed if the routine femur measurement had been retained but the systematic visualization of the fetal extremities had been done only in selected fetuses with a malformation of any kind or an abnormal family history.

Bone and Bones↗
PubMed1995

Transvaginal sonographic diagnosis of fetal finger abnormalities in early gestation.

The prenatal sonographic diagnosis of fetal finger abnormalities was recorded in a study population of 20,000 pregnant patients. All scans were performed with a vaginal transducer at 13 to 17 weeks' gestation. The following abnormalities were observed: six cases of polydactyly, three of syndactyly, nine cases of overlapping fingers, two cases of cleft hands, two cases of adactyly, one case of aphalangia, and one case of clasped thumb. In 15 of the 25 fetuses with finger abnormalities, we observed associated malformations or chromosomal disorders, or both. We therefore recommend that examination of the fingers and hands should become an integral part of the early ultrasonographic evaluation of the fetus.

Chromosome Aberrations↗
PubMed2004

First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign.

OBJECTIVE: To study the value of choroid plexus dysmorphology as a screening tool for the first-trimester sonographic diagnosis of holoprosencephaly in a high-risk population. METHODS: A total of 378 consecutive pregnancies undergoing chorionic villus sampling between 11 and 14 weeks' gestation were scanned before the procedure, following the recommendations of the Fetal Medicine Foundation (London, England). A cross-sectional view of the fetal brain, including the visualization of both choroid plexuses (the "butterfly" sign), was obtained in all cases. RESULTS: There were 3 cases in which the butterfly sign was not identified. In these cases, the first-trimester diagnosis of holoprosencephaly was confirmed by the presence of a single monoventricular cavity and fused thalami. Two of these fetuses had features of facial dysmorphism at the time of presentation and 2 had extracranial anomalies, including a cystic hygroma in 1 and a small omphalocele and polydactyly in another. Chromosomal analysis showed trisomy 13 in 2 cases and a ring chromosome 13 in the other. CONCLUSIONS: This series suggests that failure to identify the butterfly sign is a warning sign of holoprosencephaly in the first trimester. Systematic identification of the butterfly sign at the time of sonographic assessment of nuchal translucency provides a valuable tool for the early screening of holoprosencephaly.

Abnormalities, Multiple↗
PubMed1999

[A risk analysis of congenital defects due to drug intake during pregnancy. Spanish Collaborative Study of Congenital Malformations].

BACKGROUND: Illicit drug abuse is a major area of interest, for clinicians, as well as for public health and social authorities. But one of the major concerns is the illicit drug abuse during the periconceptional period and throughout pregnancy, because of its potential effect on the embryo and fetus. In this study we analyze the possible risk of illicit drug abuse during pregnancy for different selected congenital defects. MATERIALS AND METHODS: We analyzed the annual evolution of the proportion of mothers who are addicted to illicit drugs, as well as some of their characteristics. We also performed a case-control study using different models of multiple logistic regression analyses, controlling possible confounding factors. RESULTS: We observed that the proportion of mothers who are addicted to illicit drugs shows an increasing liner trend over time. On the other hand, these mothers are younger that those who are not consumers of illicit drugs, and have an overall risk for congenital defects of 1.84 (p = 0.007). We also studied the different selected types of congenital defects, controlling the potential effect of the following variables: maternal age, maternal cultural level, maternal alcohol, maternal smoking, and vitamins/minerals during pregnancy. In these analyses we obtained statistically significant increased risks for: neural tube defects, choanal atresia, esophageal atresia, gastroschisis, anal atresia, and postaxial polydactyly. CONCLUSIONS: The women who are addicted to illicit drugs during pregnancy, have an increased risk for infants with several congenital defects. The way to prevent these effects should be based on a good information about this aspect to the general population, as well as on a careful medical control of the nutrition of these mothers and their health and social conditions during gestation, and the treatment of their addiction before and during pregnancy.

Abnormalities, Drug-Induced↗
PubMed1999

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.

The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and genital anomalies, and mental retardation. Most patients with a clinical diagnosis of RSH/SLOS have a defect of cholesterol biosynthesis at the level of 3beta-hydroxysteroid-delta7-reductase, resulting in a decreased level of cholesterol and an increased level of 7-dehydrocholesterol (7DHC) in body fluids and tissues. We report on our experience with the prenatal diagnosis of RSH/SLOS by quantitative sterol chromatography in amniotic fluid (AF) and chorionic villus (CV). Of 76 AF and nine CV samples analyzed for various indications, 20 were diagnostic of RSH/SLOS based on an increased level of 7DHC in the fluid or tissue. Of 39 fetuses at a 25% risk for RSH/SLOS, 10(25.6%) were affected. Twenty-nine pregnancies not known to be at risk for RSH/SLOS were studied because of either a fetal abnormality characteristic of RSH/SLOS detected by ultrasound, a low maternal serum uE3 level (MSuE3), or both. None of the pregnancies tested, because of a low MSuE3 but lacking a sonographic abnormality characteristic of RSH/SLOS, was affected. However, three of four pregnancies with a low MSuE3 and an RSH/SLOS-type fetal abnormality were positive. RSH/ SLOS was diagnosed in two additional pregnancies on which MSuE3 data were not available but in which fetal anomalies were identified. Of these five RSH/SLOS fetuses identified in pregnancies not otherwise at risk for RSH/SLOS, the presenting sonographic anomaly was either polydactyly, ambiguous genitalia, or both. Evaluation of the biochemical parameters and clinical severity of RSH/SLOS showed that there was an inverse correlation between clinical severity and both the level of AF 7DHC and the level of MSuE3. Based on these earlier and more extensive studies, we conclude that accurate prenatal diagnosis of RSH/ SLOS is possible by sterol analysis of AF and, most likely, CV specimens as well. Furthermore, our findings suggest that MSuE3 levels in combination with sonography may provide useful diagnostic and prognostic information in the absence of a family history of RSH/SLOS.

Amniotic Fluid↗
PubMed1999

Anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3.

We report a 34-year-old female with a de novo balanced reciprocal translocation involving 2q37.2 and 7q36.3. She has a unique combination of multiple congenital malformations that include redundant skin, complete tissue syndactyly of the hands and feet, hirsutism, polycystic ovaries and bilateral anterior chamber eye anomalies. Her son has inherited the unbalanced product (46,XY,der(2) t(2;7)(q37.2;q36.3). He has a similar clinical picture with additional features including complex congenital heart disease, post axial polydactyly, hypotonia and global developmental delay. The breakpoints may indicate the location of the gene(s) responsible for this unique combination of features.

Abnormalities, Multiple↗
PubMed1999

An apparently new acrocraniofacial syndrome with cranial nerve and visceral anomalies.

We report details of a neonate with cranial bone dysplasia, broad nasal bridge, microphthalmia, optic and olfactory nerve anomalies, pulmonary segmentation defects, polydactyly, abnormally positioned and shaped thumbs, absent mesentery to the gut and streak gonads. Review of the literature and relevant databases does not identify a likely diagnosis.

Abnormalities, Multiple↗
PubMed1999

Prenatal diagnosis of thoracopelvic dysplasia. A case report.

BACKGROUND: Thoracopelvic dysplasia, a variant of asphyxiating thoracic dysplasia (Jeune syndrome), is an uncommon skeletal disorder characterized by a small thorax, pelvic abnormalities and other complex, combined anomalies, including hypomelia, polydactyly and renal anomalies. CASE: A 32-year-old woman, gravida 1, para 0, was referred at 27 weeks' gestation due to polyhydramnios. Sonography revealed hydramnios, low fetal thoracic circumference (TC) and abdominal circumference (AC) ratio (0.78), skull and skin edema, increased nuchal translucency (7 mm), micrognathia, low-set ears, left cardiac deviation (66 degrees), overriding fingers, and club and rock-buttock feet. Amniocentesis revealed a normal karyotype (46, XY). Asphyxiating thoracic dysplasia was considered. At 40 weeks' gestation, a male infant was delivered vaginally. Besides the prenatal findings, cryptorchidism and high-arched palate were noted. Radiography of the infant revealed a narrow, funnel-shaped thorax and small pelvis with short, flared iliac bones; poorly developed acetabulum; and small, shallow sciatic notch. No dyspnea was observed at five months postpartum. CONCLUSION: Thoracopelvic dysplasia should be considered when a low TC/AC ratio (< 0.8) is observed. In this case the final diagnosis was made after detailed exclusion of other disorders combined with observation of a small thorax. Prenatal diagnosis of thoracopelvic dysplasia is possible.

Adult↗
PubMed1999

Ellis-van Creveld syndrome: examination at 15 weeks' gestation.

In 1940, Ellis and van Creveld defined a syndrome they referred to as chondro-ectodermal dysplasia. This autosomal recessive condition, now usually referred to as Ellis-van Creveld syndrome (EVC), comprises bilateral postaxial polydactyly, a chondrodysplasia, characterized by shortness of limbs, and ectodermal dysplasia. Congenital heart defects are also common. There are many reports in medical literature describing affected newborns and even, older children. Here, we report the clinical, radiological and histological findings in a 15-week-old affected fetus. The diagnosis of Ellis-van Creveld syndrome in this fetus is based on a positive family history (an affected sib) and shortness of long bones as well as hexadactyly diagnosed by prenatal ultrasonography. On post-mortem examination, bilateral postaxial hexadactyly and symmetrical shortness of the long bones was noted. Histologically, there was too short a zone of cartilagineous columns in the metaphyses, a reduced number of chondrocytes and an irregularly structured spongiosa within the ossification zone. In addition, the fetus was found to have an atrio-ventricular canal. This heart defect is presumably rare in this syndrome. Other characteristic features such as small and dysplastic nails, sparse hair and abnormalities of the teeth were, of course, not yet present in this early developmental stage. In addition to EVC, the fetus had a 47,XXY chromosome constitution.

Adult↗
PubMed1999

A girl with ectodermal dysplasia, choanal atresia and polysyndactyly.

We present a 3-year-old child with clinical features of ectodermal dysplasia comprising sparse hair, dystrophic and ridged nails and bilateral obstruction of the nasolacrimal ducts. Additional findings were unilateral choanal atresia, bilateral syndactyly of the feet and polydactyly. We discuss the differential diagnosis of these clinical findings.

Abnormalities, Multiple↗
PubMed1999

Naevus varicosus osteohypertrophicus. An early diagnostic approach.

Naevus varicosus osteohypertrophicus (synonym Klippel-Trenaunay Syndrome KTS) is relatively rare circumscribed, usually quadrant-related gigantism with vascular hyperplasia or malformations based on the embryonic development. The authors observed an 18- and a 30-year-old female with a triad of symptoms: cutaneous nevus flammeus, varicose and dilated veins, and bony and soft tissue hypertrophy of the low limb. The second patient also had two venous ulcers as a dominant clinical feature--a rare manifestation of Klippel-Trenaunay syndrome. A diagnosis of Klippel-Trenaunay syndrome was made by clinical observations, laboratory findings, dermoscan, radiological examination of the bones of the limb, Doppler ultrasonography, photopletismography and venoscan. A bone isotope scan was also done to the first patient. Making an early diagnosis of this sporadic congenital disease with unknown aetiology is important in order to be able to provide early prophylactic and therapeutic measures. Klippel and Trenaunay in 1900 were the first to describe a patient with the simultaneous appearance of osteohypertrophy, hemangiomas and varicose veins involving one extremity [1]. In 1907 Parkes and Weber reported a similar syndrome--they described a patient who had dilated and pulsatile arteries in the affected region including the presence of arterio-venous communications. In 1918 they used the compromise term "haemangiectatic hypertrophy" to embrace all conditions which were associated with congenital vascular malformations including A-V anastomoses associated with bone and soft tissue hypertrophy. Most authors are agreed that Klippel-Trenaunay syndrome and the syndrome of multiple congenital arterio-venous fistulae are two separate features of the Parkes Weber hypertrophy. KTS is manifesting with a triad of symptoms: cutaneous vascular nevus (more frequently nevus flammeus type), superficial venous varicosities and hypertrophy of the affected limb. Usually one quadrant of the body is involved: quite often a leg, an arm, lateral side of the trunk, very rarely the face. More than one quadrant and bilateral involvement are rarely affected. Naevus flammeus appeared at birth. It is extremely variable both in extent and in color--the latter ranging from pale pink to deep purple. Veinous varicosities appear in childhood and adolescence. They are painful and may be complicated by superficial or deep venous thrombosis and rarely, ulceration. Hypertrophy of the affected extremities is due to bone and soft tissue hypertrophy. KTS can be associated with other developmental anomalies such as: polydactyly, syndactyly, oligodactyly [2] macrocephaly, blue nevus, epidermal naevus, venous malformations.

Adolescent↗
PubMed1999

[Cynocephali and Blemmyae. Congenital anomalies and medieval exotic races].

In the mediaeval Dutch manuscript Der naturen bloeme ('On the flowers of nature') by Jacob van Maerlant (circa 1230-circa 1296), an encyclopaedia of descriptions of people, animals, plants and minerals dating from about 1270, many illustrations refer to the text. An intriguing part of the book is called 'Vreemde volkeren' ('Exotic people'). In another manuscript of Van Maerlant, Dit is die istory van Troyen ('The history of Troyes') in the chapter 'De wonderen van het Verre Oosten' ('The miracles of the Far East') the exotic people are also described. These exotic people have many features similar to congenital malformations. 'Hippopodes' are probably based on the lobster claw syndrome, 'Cynocephali' on anencephaly, 'Arimaspi' on cyclopia, 'Blemmyae' on acardiacus, the double-faced on diprosopus, 'Sciopods' on polydactyly and 'Antipodes' on the sirenomelia sequence.

Abnormalities, Severe Teratoid↗
PubMed2000

Prenatal exposure to valproic acid during pregnancy and limb deficiencies: a case-control study.

We conducted a case-control study using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) on the relationship between prenatal exposure to valproic acid (VPA) and the presence of limb deficiencies in newborn infants. Among a total of 22,294 consecutive malformed infants (once we excluded genetic syndromes) and 21,937 control infants with specified data on antiepileptic drugs during gestation, 57 malformed infants and 10 control infants were exposed to VPA during the first trimester of pregnancy. Of the total of malformed infants exposed to VPA, 36.8% (21/57) presented with congenital limb defects of different types (including overlapping digits, talipes, clubfoot, clinodactyly, arachnodactyly, hip dislocation, pre- and postaxial polydactyly, etc.), three of them having limb deficiencies. The result of the case-control analysis shows a risk for limb deficiencies of odds ratio = 6.17 [confidence interval (CI) 1.28-29.66, P = 0.023], after controlling for potential confounder factors. If we consider that in our population the prevalence at birth of this type of defect is 6.88 per 10,000 livebirths (95% CI 6.43-7.36) we can estimate that the risk for women treated with VPA of having a baby with limb deficiencies would be around 0.42%. The limb deficiencies in the three patients exposed to VPA were the following: the first case was a newborn infant with hypoplasia of the left hand, the second patient was a newborn infant with unilateral forearm defect and hypoplastic first metacarpal bone in the left hand, and the third patient presented with short hands with hypoplastic first metacarpal bone, absent and hypoplastic phalanges, retrognathia, facial asymmetry, hypospadias, teleangiectatic angioma in skull, and hypotonia.

Anticonvulsants↗
PubMed2000

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

We report on two patients with clinical manifestations consistent with a diagnosis of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC). Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition, the first had cutis marmorata and joint laxity. The second had postaxial polydactyly of hands and feet, cutaneous syndactyly of third and fourth right fingers and of second and third right toes without evident cutis marmorata. A magnetic resonance imaging scan showed cerebral alterations in both patients. The first had bilateral cortical dysplasia with frontal bilateral myelinization defect of corona radiata. The second had mild intertonsillar widening, cavum septi pellucidi, small porencephalic areas in the anterolateral region of cellae, and subsequently developed a nonobstructive hydrocephalus. Reviewing all reported cases we propose a new criterion for M-CMTC diagnosis.

Abnormalities, Multiple↗
PubMed2000

Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi.

Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol Delta(7)-reductase (DHCR7). We diagnosed SLOS in a fetus following intrauterine demise at 32 weeks' gestation. Chorionic villus (CV) sampling had been performed at 30 weeks because oligohydramnios and atrioventricular septal defect were noted on fetal ultrasound. On fetal post-mortem examination, a midline U-shaped soft palate cleft, micrognathia, postaxial polydactyly of the fingers with single transverse palmar creases bilaterally, and cutaneous syndactyly of toes two-three bilaterally suggested SLOS. We hypothesized that SLOS could be confirmed by analysis of tissue sterols despite extensive autolysis, and by measurement of enzyme activity in CV cells. Measurement of DHCR7 activity in CV cells was undertaken using ergosterol as a substrate. CV cells were unable to convert any ergosterol to brassicasterol after a 72 h incubation period while control CV cells reduced 12.6-71.8% of ergosterol to brassciasterol in a 72 h period. SLOS was confirmed by measurement of elevated 7-dehydrocholesterol (7-DHC) in the CV cells. Measurements of sterols were made in multiple fetal tissues. All tissues analysed showed elevated 7-DHC with markedly increased 7-DHC/cholesterol ratios.

Adult↗
PubMed2000

Defects of blastogenesis: counseling dilemmas in two families.

Three patients are described with defects of blastogenesis and predominantly midline defects. Two were sibs of whom the firstborn were female cephalothoracopagus-conjoined twins with multiple predominantly midline defects initially thought to be a sporadic occurrence. A subsequent brother presented with severe hydrocephalus, rhombencephalosynapsis, conotruncal defect, ambiguous genitalia, and unilateral pre-axial polydactyly; an autosomal recessive defect is postulated in this case. Patient 3 had hydrocephalus, small cerebellum, cleft lip and palate, and a large sacrococcygeal teratoma, the better differentiated part of which included ovarian tissue with primordial follicles. The latter may occur in incomplete twinning as a defect of blastogenesis. The mother had had a previous termination of a fetus with hydrocephalus from a different relationship. Counseling was difficult since no examinations were done on the previous fetus and no further investigations of this family could be obtained, but a genetic origin is suspected. Most defects of blastogenesis are sporadic; however, some cases have a genetic cause and ultrasound examinations should be offered in subsequent pregnancies.

Abnormalities, Multiple↗
PubMed2000

Acute cerebellar hemorrhage in a patient with Klinefelter syndrome: XXY karyotype obtained postmortem from cells from pericardial fluid.

A case of Klinefelter syndrome and a spontaneous cerebellar hemorrhage in a 12-year-old boy is presented. Autopsy revealed that the hemorrhage was due to the rupture of a dilated artery in an arteriovenous malformation in the right cerebellar hemisphere. The small, undescended testes exhibited partial atrophy of the seminiferous tubules. Postmortem chromosome analysis of cells from the pericardial fluid demonstrated a 47, XXY karyotype. He had previous surgical treatment for bilateral thumb polydactyly and patent ductus arteriosus. In juvenile cases of sudden death with overlapping morphological dysgenesis, postmortem karyotyping may provide important diagnostic information.

Cause of Death↗