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At least 1,261 records · Page 70Linked to original sources
PubMed1998

Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency.

Animal studies have suggested an important role for the homeobox-containing gene MSX1 in limb, oralfacial, and cardiac malformations. In this study of 516 Caucasians with isolated birth defects registered in the Maryland Birth Defects Reporting and Information System (BDRIS), we report an association between a dinucleotide repeat polymorphism in MSX1 and isolated limb deficiency. Frequencies of rare alleles at the MSX1 locus are significantly higher among 34 infants with limb deficiency compared to 482 infants with other isolated birth defects (oral clefts, dislocation of hip, clubfoot, hypospadias, polydactyly, or syndactyly) (chi2 = 11.0, df = 3, P = 0.012). Infants carrying the rare alleles had a 4.81-fold higher risk of a limb deficiency when the mother reported smoking during pregnancy, compared to infants who are homozygous for the common allele and whose mother did not smoke. The significance of this apparent gene-environment interaction is attributed to infants with malformation of the lower limb. The statistical association and potential gene-environment interaction observed in this study (which was originally designed to investigate oral clefts) are compatible with results from animal studies involving the MSX1 gene, and suggests that further investigation into biological mechanisms is warranted.

Adult↗
PubMed1998

Lymphedema combined with brachydactyly and tachycardia.

Hereditary lymphedema can appear at birth or later up to adulthood. It may be seen in connection with diverse symptoms forming various syndromes. The authors report a family with hereditary lymphedema, brachydactyly, syndactyly and tachycardia. Lymphedema and tachycardia could appear together by chance. However this combination could also be a syndrome.

Adult↗
PubMed1998

Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies.

Ellis-van Creveld syndrome (EvC), also called chondroectodermal dysplasia, is a rare occurrence inherited as an autosomal recessive disease. Despite the fact that oral manifestations play an important role in the diagnosis criteria for EvC, few detailed reports have been published in the dental literature. This articles presents two siblings with EvC, a boy aged 9 years and a girl aged 7 1/2 years, a product of unaffected first cousin parents. The patients manifests: chondrodysplasia of tubular bones resulting in disproportionate dwarfism, polydactyly and syndactyly of hands and feet, severe dystrophic nails, multiple broad labial frenula with abnormal attachments, congenital missing incisors, anomalous teeth, bilateral partial clefts of the alveolar bone, and malocclusion. Other features noted in either cases are: congenital heart defect, median notch of the upper lip, shovel-shaped incisors and taurodontism. Of the unusual dental findings observed in our patients are talon cusp, reduced crown size, supernumerary tooth, and early eruption of teeth. Because half of the cases with EvC have cardiac malformation, dental treatment must be performed under prophylactic antibiotic coverage. Dentists play an important role in early diagnosis and control of dental problem of this condition.

Anodontia↗
PubMed1998

Prenatal diagnosis of Apert syndrome.

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosed of AS was based on associated abnormal physical features and on molecular genetic analysis. A C-to-G transversion at position 937 of the cDNA resulting in a proline-to-arginine substitution at codon 259 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation.

Acrocephalosyndactylia↗
PubMed1998

Carpenter syndrome: report of two siblings.

Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation. Here we report two affected sibs (IQs were 80 and 93) presenting various cerebrospinal malformations, i.e. frontal lobe deformity, narrowed foramen magnum, hypoplastic posterior fossa, kinked spinal cord, and syrinx cavitation demonstrated by magnetic resonance imaging.

Abnormalities, Multiple↗
PubMed1998

Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization.

Bartsocas-Papas syndrome is a severe autosomal recessive popliteal pterygium syndrome. Other anomalies include microcephaly, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal and nonectodermal anomalies. We report on four Arab sibs with manifestations of this syndrome and some additional traits that include cutis aplasia, widely spaced nipples, low-set umbilicus, and unilateral renal hypoplasia among others. One was stillborn, and the other three children lived 10-17 months. Parents were nonconsanguineous, derived from different Bedouin tribes in Qatar and the United Arab Emirates. Similar cases from the literature are reviewed.

Abnormalities, Multiple↗
PubMed1998

Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly.

We report on a boy with anophthalmia, split hand, oligodactyly, syndactyly and polydactyly: These features are consistent with the diagnosis of the ophthalmo-acromelic syndrome (Waardenburg). However, the hand anomalies have not been reported yet. This observation helps to extend the wide range of expressivity of this rare syndrome.

Adult↗
PubMed1998

[Congenital malformations of the genitourinary tract in children with Smith-Lemli-Opitz syndrome].

Smith-Lemli-Opitz (SLO) syndrome is an autosomal, recessive condition. The essence of SLO is abnormal metabolism of cholesterol which is characterized by decreased level of cholesterol and increased level of 7-dihydrocholesterol in serum. The main clinical features are mental retardation and congenital malformations of various organs and systems--microcephaly, syndactyly, craniofacial anomalies, cleft palate and genitourinary system, mainly external genitalia. We analyzed the group of 12 children (2 girls and 10 boys) treated due to SLO in The Children's Memorial Health Institute since 1982 to 1997. In boys we diagnosed: penile curvature; hypospadia without hypospadias; glandular, penile and scrotal hypospadia, undescended; hydrocele testis; mild unilateral hydronephrosis and in girls we reported moderate hypertrophy of clitoral preputium and stenosis of external urethral meatus. The surgical treatment was planned.

Adolescent↗
PubMed1977

Ocular manifestations of focal dermal hypoplasia syndrome.

Although 40 percent of patients with the focal dermal hypoplasia syndrome have ocular abnormalities, to our knowledge, only one case of this condition has been previously described in the ophthalmic literature. Two additional cases are presented, and the systemic and ocular findings are reviewed.

Adolescent↗