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PubMedDate not supplied

[Clinical expression of triploidy].

Triploidy, the presence of an additional haploid set of chromosomes, is the cause of 20% of spontaneous abortions, premature births and perinatal deaths. The most common clinical signs of triploidy are: severe intrauterine growth retardation, macrocephaly, total syndactyly of third and fourth fingers and CNS, heart and renal defects. Hydatidiform mole, one of the characteristic features of pure triploidy, is found in more than 90% of cases. The survival of individuals with diploid/triploid mixoploidy is usually longer than of those with pure triploidy. The detailed clinical characteristics of two of our patients with triploidy diagnosed shortly after birth are presented. In one of them mixoploidy (lymphocytes/fibroblasts) was confirmed. In the second pure triploidy was identified in cultured lymphocytes. We discuss the clinical features in our patients and compare them with data from medical literature.

Abnormalities, Multiple↗
PubMed1992

Scalp lipomas and cerebral malformations--report of a case and review of the literature.

A child is reported with a scalp lipoma and underlying bony skull defect and porencephaly. The clinical picture is compatible with a diagnosis of encephalocraniocutaneous lipomatosis, although there is no alopecia overlying the lipoma and no scleral lesions. In addition, this child has unilateral ptosis and syndactyly. This report extends our appreciation of the phenotype of this neurocutaneous disorder.

Abnormalities, Multiple↗
PubMed2003

Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).

Osteopathia striata with cranial sclerosis (OSCS), conductive hearing impairment and a characteristic facial appearance is the clinical manifestation in carrier women of an X-linked disease. We report on a family with typical OSCS in the mother, a maternal aunt and the grandmother, and multiple severe malformations in the son. He was affected by cranial sclerosis with frontal bossing, conductive hearing impairment, cleft palate, thoracic dysplasia, mesenterium commune with non-rotation of the gut, anal atresia, bilateral cutaneous syndactyly of 3rd and 4th fingers, duplication of the distal phalanx of 2nd and 3rd fingers on the right, bilateral fibular aplasia with clubfeet, developmental retardation, epileptic seizures, hypothyroidism, and hypertrophic pyloric stenosis. The X-inactivation pattern in peripheral leucocytes of one informative carrier woman was random. Our case and several literature reports confirm that males which are hemizygous for the OSCS trait suffer from a dysmorphic syndrome with characteristic multiple malformations as a distinct entity. There is, at present, no reason to assume genetic heterogeneity with an autosomal dominant OSCS variant.

Abnormalities, Multiple↗
PubMed2004

The newborn foot.

An examination of the feet is an essential component of an evaluation of a newborn. A thorough examination can be performed quickly. Despite its small size, the newborn foot is a complex structure. Most deformities can be diagnosed easily with physical examination alone, using few diagnostic studies. A thorough examination includes assessment of vascular, dermatologic, and neurologic status of the lower extremities, and observation, palpation, and evaluation of joint range of motion in both feet. Common newborn foot abnormalities include metatarsus adductus, clubfoot deformity, calcaneovalgus (flexible flatfoot), congenital vertical talus (rigid flatfoot), and multiple digital deformities-polydactyly, syndactyly, overlapping toes, and amniotic bands. Most treatments include conservative measures, such as observation, stretching, and splinting, which can be performed easily in the family medicine setting. Cases that require surgical correction should be referred to a subspecialist with expertise in correcting lower extremity deformities in children. When surgery is indicated, procedures generally are postponed for six to nine months so that the child will better tolerate anesthesia.

Foot↗
PubMed2004

[Oral-facial-digital syndrome type I. A case report].

Oral-facial-digital syndrome type I (OFDI) is a congenital X-linked dominant disorder characterized by anomalies of the oral cavity, face and digits sometimes associated to cerebral malformations and polycystic kidney disease. The gene, responsible for this syndrome, is ofd1. Clinically it is seen only in females. Lesions of the mouth include median pseudoclefting of the upper lip, clefts of the palate and tongue, and dental anomalies (missing or supernumerary teeth, enamel hypoplasia, and teeth malpositions). Dysmorphic features affecting the head include hypertelorism, frontal bossing, micrognathia, facial asymmetry and broadened nasal ridge. The digital abnormalities are syndactyly, clinodactyly, brachydactyly and, rarely, pre or post-axial polydactyly. Less frequently ex-pressed phenotypic anomalies include skin milia, alopecia, deafness and trembling. Sometimes the diagnosis of OFDI can be difficult because there is an overlap with other types of oral-facial-digital syndromes. A sporadic case of OFDI, with 7 lower incisors, both in the primary and permanent dentition, is reported. This dental anomaly is very unusual because in literature only supernumerary cuspids are reported. In the light of this case, the authors discuss the oral phenotypic expression of ofd1 gene and its role in human odontogenesis.

Child↗
PubMed1984

Tetralogy of fallot and congenital connection between the left subclavian artery and the pulmonary artery: possible relationship to a congenital left-hand deformity.

A patient with tetralogy of Fallot was found to have pulmonary sling and an anomalous connection of the left subclavian artery with the pulmonary artery. At birth, she had a left split-hand deformity with preaxial (radial) syndactyly. Anomalous connection of a systemic vessel with the pulmonary artery is an uncommon cardiovascular defect. It is suggested that this cardiac defect may have caused intrauterine limb ischemia and the hand defect.

Journal Article↗
PubMed2005

Understanding the molecular basis of Apert syndrome.

Apert syndrome, first described in 1906, is one of the most severe of the craniosynostosis syndromes and is further characterized by midface hypoplasia, syndactyly, and other visceral abnormalities. Affected individuals generally require lifelong management by a multidisciplinary team of health care specialists. Apert syndrome results almost exclusively from one or the other of two point mutations in fibroblast growth factor receptor 2. Tremendous scientific advances have been made recently in understanding the molecular basis for Apert syndrome through clinical genetic, biochemical, and structural approaches. In this review, the authors provide the clinician with a basic overview of these findings and their therapeutic implications.

Acrocephalosyndactylia↗
PubMed2005

Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?

We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.

Brain Diseases↗
PubMed2003

Birth defects ascertainment in the Philippines.

In the Philippines, congenital anomalies rank among the top 20 causes of death across the life span and are already the third leading cause of death in the infancy period (Philippine Department of Health, 1996). Despite the magnitude of the problem, no formal systematic registration of birth defects has been done in the country up until 1999. Various attempts have been made by different study groups to gather data but there was never a formal effort to consolidate the information and establish a centralized registry. Data from various modes of ascertainment are hereby presented: 1) Philippine Birth Defects Registry Project, 2) Hospital In-Patient and Out-Patient Registries, 3) Prenatal Inventory and Neonatal Outcome Study Group, 4) Hospital Pathology Reports, and 5) Community Outreach Programs. Birth Defects Registry Project had the largest reporting of the different methods presented here. The most common birth defects were multiple congenital anomalies, congenital malformations of the tongue, mouth, and pharynx (ankyloglossia), cleft palate with cleft lip, Down Syndrome, congenital deformities of the feet (talipes equinovarus), anencephaly, other congenital malformations of the face and neck, congenital malformations of the musculoskeletal system (diaphragmatic hernia, gastroschisis), hypospadias, congenital hydrocephalus, polydactyly, syndactyly, and cleft lip.

Congenital Abnormalities↗
PubMedDate not supplied

Oculodentodigital dysplasia. A case report.

This report describes a rare case of oculodentodigital (ODD) dysplasia, an autosomic-dominant disease with alteration on the gene GJA1 of connexin 43 on the human chromosome 6q22-q23, highlighting the anomalies affecting face, eyes, teeth and limbs. The case described shows bilateral microphthalmia, microcornea, syndactyly and other phenotypic alterations characteristic of this syndrome, such as: nose of reduced size with hypoplasic wings, partial stenosis of the choanae, micrognathia, ogival palate and hypoplasia of the enamel. The authors emphasize the importance to know the principal features of ODD syndrome in order to make a correct diagnosis and the role of the dentist in the treatment of this pathology.

Abnormalities, Multiple↗
PubMedDate not supplied

Craniofacial characteristics evidenced in Bartsocas-Papas syndrome from birth to five years. Case report.

Bartsocas-Papas Syndrome (BPS) is a rare congenital disorder, first described in 1972. It is usually characterized by neonatal or intrauterine death, and, as such, only 26 cases have been reported. Physical manifestations such as antecubital and popliteal pterygia (webbing), syndactyly of fingers, toes and talipes are frequently reported. However, oral, facial, cranial and dental anomalies are often overlooked. This case focuses on the latter anomalies and the effect they have on the facial growth of a 5-year-old patient.

Abnormalities, Multiple↗
PubMed1991

[Polydactyly].

Polydactyly is one of the hand's most frequent congenital deformities. Classification of this deformity distinguishes radial or thumb duplication, central duplication that is almost constantly associated with syndactyly (called polysyndactyly) and ulnar duplication. The latter is important especially in caucasian people because it can be part of a syndrome. Surgical techniques are briefly mentioned for the different forms.

Fingers↗
PubMed1991

One more case of a severe lethal condition resembling the Smith-Lemli-Opitz, type II syndrome.

A male child with a lethal multiple congenital anomaly syndrome of facial dysmorphism, ambiguous genitalia, syndactyly and postaxial polydactyly is presented. He had findings consistent with the diagnosis of Smith-Lemli-Opitz type II syndrome. Similar changes were observed in his elder sister, who died when she was 2 months old. On the basis of this familial observation the nosology of Smith-Lemli-Opitz syndrome is discussed.

Congenital Abnormalities↗
PubMed1991

[Fetal alcohol syndrome--case report].

Clinical picture of the fetal alcohol syndrome (FAS) is described by the example of three girls aged 9, 11 and 11 years. Besides mild to moderate mental retardation, all the three girls had a number of physical anomalies characteristic of FAS. Inheritance as the possible cause of these defects was ruled out by genetic testing. Low birth weight, delay in the postnatal growth and development, microcephaly, hypertelorism, malformed and low-positioned auricles, as well as skeletal alterations, were observed in the three girls. In two of them, epicanthus, strabismus, microphtalmia, gothic palate, crossbite and arachnodactyly were also found. Progenia, cleft palate, aplasia of the uvula, wide root of the nose, saddle nose, enamel hypoplasia, dermatoglyphic alterations, and cutaneous syndactyly and clinodactyly of the fifth finger were recorded in single cases each. One girl suffered from epilepsy. The orofacial region is especially affected in children with FAS, which necessitates specific dental care. Due to decreased intellectual abilities of such children, their treatment is particularly difficult and requires specific approach and methods of work.

Abnormalities, Multiple↗
PubMedDate not supplied

Apert syndrome.

A case of Apert syndrome in a male child of 5 months old has been reported. The diagnosis was based on the clinical appearance (phenotype) showing acrocephaly and syndactyly of both hands and feet, supported by skull roentgenography and ultrasonography. The patient was the third child from normal parents, and the two other children were normal. Apert syndrome is a genetic dominant autosomal disease; and because there were no other sufferer from the family history, the occurrence of this syndrome has been caused by a new mutation. Symptomatic therapy such as the administration of acetazolamide for hydrocephalus and vitamin supplement to improve his general condition, and even physical physiotherapy have been carried out. Genetic counselling to the couple has been provided as well.

Acrocephalosyndactylia↗
PubMed1991

69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy.

A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy).

Abnormalities, Multiple↗
PubMed1977

[A new complex polymalformative syndrome (author's transl)].

The authors discuss the nosological position and the aetiology of a complex of malformations affecting a boy, born at the end of a 40-week pregnancy with a weight of 1420 g and height of 42.5 cm, who died at the age of 3 1/2 months. The case presented an association of an acrocephalosyndactyly, phalangeal hypoplasias with anonychia, aplasia of the abdominal muscles, a genital hypoplasia with cryptorchidism and hypospadias, patches of lipodystrophy localised on the outside of the arms, at the folds of the elbow and the popliteal fossae. The autopsy revealed a large interventricular communication, absence of common mesentery and especially important cerebral anomalies (smooth brain, absence of interhemispherical suture, disorganization of the basal ganglia). The genetic study suggested a spontaneous abortion 2 1/2 months before the birth of the patient and revealed, in the mother, the presence of bilateral clinodactylies of the fingers and a unilateral syndactyly of the big toes.

Abdominal Muscles↗
PubMed1990

[Apert's syndrome: the clinico-radiographic picture].

Apert's syndrome is a rare malformation (dysostosis), probably of a hereditary nature. It is characterised by craniostenosis, caused by synostosis of the coronal sutures, and by bilateral and symmetrical membranous syndactyly of the hands and feet, to which metacarpal, metatarsal and phalangeal synostoses are associated. Less frequent are dysplastic modifications in other osteo-articular regions and malformations of the viscerae. The authors expose and discuss the etiopathogenetic, clinical and radiographic aspects of this syndrome, in relation to three clinical cases which came to their observation.

Acrocephalosyndactylia↗