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PubMed1998

Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in a girl.

Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in which are combined in a syndrome or which do not fit in any of the known syndromes. We report a child with congenital bilateral deficiency of the fibula and an unusual combination of features. The patient, a girl, was born after an uneventful pregnancy at term to young healthy parents. Absent fibulae were noted at birth. At age 4 she was found to have growth retardation with delayed bone age, overlapping, short toes, syndactyly of the toes, clinodactyly of the 5th and 2nd fingers, syndactyly of the three last fingers and facial dysmorphia. Mental retardation was present. Karyotype and laboratory investigations were normal. Differential diagnosis included syndromes with aplasia or hypoplasia of fibula, but none of these syndromes seemed to include the girl's features.

Abnormalities, Multiple↗
PubMed2005

A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.

OBJECTIVES: To describe a Brazilian family with oculodentodigital dysplasia (ODDD) and to screen for mutations in the gap junction protein alpha 1 (GJA1) gene in this family. METHODS: Twelve members of a 3-generation family with ODDD underwent screening for mutations of the GJA1 gene and a comprehensive ophthalmic examination. We defined ODDD on the basis of clinical characteristics described in this syndrome (microdontia, caries, enamel hypoplasia, thin nose, and syndactyly) and eye abnormalities such as microphthalmos, iris atrophy, and glaucoma. Direct sequencing of the GJA1 gene was performed using DNA collected from peripheral blood. A control group of 60 healthy individuals underwent evaluation by means of enzyme digestion. RESULTS: Among the 8 members of this family who were characterized as having ODDD, 2 showed chronic angle-closure glaucoma, and 1 had open-angle glaucoma. A new mutation in the GJA1 gene was identified, consisting of a change from proline to histidine at codon 59. This mutation segregated through members with the ODDD phenotype. Analysis of the control group by means of restriction fragment length polymorphism (MvaI enzyme) did not disclose this mutation. CONCLUSION: Our results demonstrate a new mutation (P59H) in the GJ1A gene, identified in a family with ODDD syndrome. Clinical Relevance The presence of different forms of glaucoma in families with ODDD may indicate a new mutation in the GJA1 gene.

Abnormalities, Multiple↗
PubMed1979

Oculodentodigital dysplasia. Four new reports and a literature review.

Four new patients with oculodentodigital dysplasia (ODD) have been examined. The salient and fairly constant features of ODD appear to be (1) unique facial appearance, (2) microcornea with other inconstant ocular findings, (3) syndactyly of the hands with additional characteristic phalangeal aberrations, (4) diffuse skeletal dysplasia, (5) enamel dysplasia, and (6) trichosis. Echographic studies indicate that ODD globes have microcornea with otherwise normal dimensions. An increased number of vessels crossing the optic discs was observed in three patients from one family. The distance between the inner canthi and the medial orbital walls in three patients we studied suggests that previous reports of hypertelorism may have been illusions resulting from microcornea, small palpebral fissures, and variably present epicanthus.

Adolescent↗
PubMed1979

Greig cephalopolysyndactyly syndrome.

Based on the family presented and five others previously described, it can be concluded that the Grieg cephalopolysyndactyly syndrome is a fully penetrant autosomal dominant disease consisting of four variably expressed malformations: postaxial polydactyly (type B), preaxial polydactyly, syndactyly, and minor craniofacial abnormalities. This entity can be differentiated from other craniofacial-digital syndromes because of the absence of mental retardation, craniosynostosis, and brachydactyly.

Adult↗
PubMed1996

Oculo-facio-cardio-dental (OFCD) syndrome.

Oculo-facio-cardio-dental syndrome consists of (1) eye anomalies: congenital cataract and microphthalmia, or secondary glaucoma, (2) facial abnormalities: (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate, (3) cardiac anomalies: atrial septal defect (ASD), ventricular septal defect (VSD), or floppy mitral valve; and (4) dental abnormalities: canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length. Other less common findings are: sensorineural hearing loss, septate vagina, and syndactyly of toes 2-3. Inheritance may be an X-linked dominant trait, lethal in the male.

Adult↗
PubMed1996

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.

Hereditary developmental abnormalities of the upper or lower limbs in humans are easily recognizable phenotypes that can be used in the mapping and cloning of genes involved in normal human development. We studied a large Indian pedigree (UR002) with an autosomal dominant triphalangeal thumb (TPT) and polysyndactyly (PSD). The abnormalities were present only in the upper limbs, and the phenotype was fully penetrant. The expression of the phenotype was variable and ranged from unilateral TPT to bilateral TPT, preaxial du-, tri-, or quadruplication of the thumb, or syndactyly of multiple thumbs. There were 112 affected individuals in the pedigree. Previous linkage analyses on apparently similar phenotypes have identified a locus at 7q36 [Heutink et al., 1994, Nature Genet 6:287-291; Tsukurov et al., 1994]. To map the gene responsible for the TPT-PSD in family UR002, we performed linkage analysis in DNA from 47 affected and 7 normal individuals. Marker D7S550, located at 7q36, yielded a maximum LOD score of 11.31 at theta = 0.00. Additional markers in the region also showed no recombination. These data indicate that the gene responsible for the hand abnormality in pedigree UR002 maps to the same region as that in previous pedigrees with similar phenotype. Further analyses of recombinants among all the linked families by using new polymorphic markers will narrow the critical genomic region and facilitate positional cloning of the elusive gene.

Chromosome Aberrations↗
PubMed1999

New type of synpolydactyly of hands and feet in two unrelated males.

An 18-year-old Japanese boy and a 10-year-old Chinese boy both had nearly complete cutaneous syndactyly of the fingers and toes, six diphalangeal fingers on each hand, six toes on each foot (except the right foot of patient 2), and short, deformed, and on occasion partially fused metacarpals and metatarsals. Neither had other malformations and were of normal intelligence. The accessory toes in patient 1 were mesoaxial, each situated between the hallux and the third toe, whereas those in patient 2 were postaxial. In view of these findings, the disorder in 2 individuals is likely to represent a hitherto undescribed type of nonsyndromic synpolydactyly.

Adolescent↗
PubMed2000

Imperforate anus in Feingold syndrome.

A father and daughter had the characteristic findings of Feingold syndrome including microcephaly, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes. The infant presented with long-gap esophageal atresia without fistula (type A). Her father, who had short stature and learning disabilities, had congenital imperforate anus with a recto-vesical fistula. This is the first report of distal intestinal atresia in Feingold syndrome.

Abnormalities, Multiple↗
PubMed1997

Diagnostic echographic findings in cryptophthalmos syndrome (Fraser syndrome).

We report two male siblings with cryptophthalmos syndrome (Fraser syndrome), an autosomal recessive multiple malformation syndrome with cryptophthalmos, abnormal genitalia, and syndactyly of the fingers and toes as major clinical symptoms. Renal anomalies (uni- or bilateral agenesis) occur in 85 per cent. In the second trimester of both pregnancies (at 23.5 and 18.5 weeks, respectively), echographic examination revealed multiple anomalies: oligoamnios sequence and fetal hydrops with nuchal oedema. Contrasting with the oligohydramnios, the lungs were voluminous and hyperechogenic. Fetopathological examination revealed that the oligoamnios sequence was due to major renal abnormalities (bilateral renal agenesis in the first, and unilateral renal agenesis and contralateral multicystic renal dysplasia in the second sibling). Laryngeal substenosis had resulted in another malformation sequence consisting of overdistended lungs, and non-immune fetal hydrops. The present experience shows that in the presence of an oligoamnios sequence with contrastingly voluminous, hyperechogenic lungs, the diagnosis of cryptophthalmos syndrome should seriously be considered in the differential diagnosis.

Abnormalities, Multiple↗
PubMed1999

Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with Fraser syndrome.

We describe a 25-week-old female fetus of consanguineous parents with ultrasonographic findings of increased echogenicity of lungs mimicking CAM (cystic adenomatoid malformation) type III, olygohydramnios and fetal ascites. A therapeutic abortion was performed and unilateral cryptophthalmos, laryngeal atresia and bilateral syndactyly of the hands and feet were observed at post-mortem. These findings confirmed the diagnosis of Fraser syndrome after abortion.

Abnormalities, Multiple↗
PubMed2000

Autosomal recessive multiple pterygium syndrome: a new variant?

Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents.

Abnormalities, Multiple↗
PubMed2001

Parental consanguinity in specific types of congenital anomalies.

Parental consanguinity, as a recognized risk factor for congenital anomalies, has mainly been studied with a focus on the types of parental relationships and their effects on genetic syndromes or birth defects in general. The present work analyzed the association between parental consanguinity and congenital anomalies, split, when possible, into clinical subtypes, in an attempt to obtain some insight into their recognized etiological heterogeneity. The material consisted of 34,102 newborn infants, affected by one of 47 selected congenital anomaly types, ascertained by the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) during the period from 1967 to 1997. The consanguinity rate for each congenital anomaly type was compared with that of the population under study (0.96%), and the potentially confounding effect of six selected variables was controlled through a conditional logistic regression analysis for those congenital anomalies significantly associated with consanguinity. Pre-occurrence rates for the same congenital anomaly in sibships of consanguineous and non-consanguineous cases were compared. A significant association with parental consanguinity was observed for three congenital anomaly types: hydrocephalus, postaxial hand polydactyly, and bilateral cleft lip +/- cleft palate, while three additional anomalies, namely, cephalocele, microcephaly, and hand + foot postaxial polydactyly, showed a positive association, but statistical significance disappeared after adjustment for confounders, probably owing to sample size reduction. The association between consanguinity and Down syndrome was mainly due to the confounding effect of maternal age, while for hydrops fetalis and 2-3 toe syndactyly, the observed positive association could not be tested for confounders due to sample size reduction.

Cleft Lip↗
PubMed2002

Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.

We report on a prenatally diagnosed four-month-old boy with DiGeorge-like phenotype and a deletion of chromosome 10pter --> 14. Fluorescence in situ hybridization (FISH) experiments using phage artificial chromosome (PAC) and yeast artificial chromosome (YAC) clones indicated that the chromosomal breakpoint was located at the proximal boundary of the DiGeorge syndrome 2 (DGS2) critical region. The patient demonstrated a high forehead, high arched eyebrows, short palpebral fissures, sparse eyelashes, prominent nose with bulbous tip, small mouth, receding chin, round ears with deficient helices, cardiac defects atrial septal defect (ASD), ventricular septal defect (VSD), mild brachytelephalangy, mild syndactyly, hypoplastic left kidney, undescended testes, muscular hypertonia, dorsally flexed big toes, and developmental delay. The phenotype corresponded well with the clinical signs of 10p deletion of this region that were described previously. The facial features appeared different from the typical face with the 22q11 deletion.

Abnormalities, Multiple↗
PubMed2002

FGFs, their receptors, and human limb malformations: clinical and molecular correlations.

Fibroblast growth factors (FGFs) comprise a family of 22 distinct proteins with pleiotropic signaling functions in development and homeostasis. These functions are mediated principally by four fibroblast growth factor receptors (FGFRs), members of the receptor tyrosine kinase family, with heparin glycosaminoglycan as an important cofactor. Developmental studies in chick and mouse highlight the critical role of FGF-receptor signaling in multiple phases of limb development, including the positioning of the limb buds, the maintenance of limb bud outgrowth, the detailed patterning of the limb elements, and the growth of the long bones. Corroborating these important roles, mutations of two members of the FGFR family (FGFR1 and FGFR2) are associated with human disorders of limb patterning; in addition, mutations of FGFR3 and FGF23 affect growth of the limb bones. Analysis of FGFR2 mutations in particular reveals a complex pattern of genotype/phenotype correlation, which will be reviewed in detail. Circumstantial evidence suggests that the more severe patterning abnormalities are mediated by illegitimate paracrine signaling in the mesoderm, mediated by FGF10 or by a related FGF, and this is beginning to gain some experimental support. A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations.

Acrocephalosyndactylia↗
PubMed1979

Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.

We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes. Similar cases have been reported by Neu et al [1], Laxova et al [2] and Povysilova et al [3]. The above-mentioned syndrome complex is a distinct genetic syndrome, for which we propose the eponym "the Neu-Laxova syndrome." Affected patients resemble each other strikingly and there is usually no doubt about the diagnosis. The Neu-Laxova syndrome is apparently transmitted as an autosomal recessive trait.

Abnormalities, Multiple↗
PubMed1980

The Dubowitz syndrome: further observations.

An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial appearance is now recognized as the Dubowitz syndrome. Five addition additional cases of the Dubowitz syndrome are reported, including 2 with documented vascular abnormalities.

Face↗
PubMed1981

Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5.

A female infant was born at term with congenital anomalies and a deletion of the short arm of chromosome 5. The anomalies included thymic dysplasia and lymphocyte-depleted nodes of the type seen in combined immune deficiency; atrial and ventricular septal defects, pulmonary valve atresia, and anomalous pulmonary-bronchial communication through the lungs; and shortness of forearms with syndactyly of fingers. A review indicates that the association of cardiac lesions, thymic dysplasia, oligosyndactyly and deletion of chromosome 5p is unique.

Abnormalities, Multiple↗
PubMed1987

Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.

We report on a noninbred girl with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. Her mother had minor anomalies which could represent the mild expression of a gene. A review on the conditions combining ectodermal dysplasia and cleft lip/palate is presented.

Abnormalities, Multiple↗