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At least 19 recordsLinked to original sources
PubMed1995

Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review.

We describe a newborn boy with multiple anomalies, including bilateral split foot and an interstitial deletion of chromosome 2 (q24.2-q31.1). Four additional cases in 2 families involving similar deletions have been reported. Bilateral digital anomalies of hands and feet were seen in all 5 cases, including a wide cleft between the first and second toes, wide halluces, brachysyndactyly of the toes, and camptodactyly of the fingers. Other common manifestations have included postnatal growth and mental retardation, microcephaly, down-slanting palpebral fissures, micrognathia, and apparently low-set ears. Bilateral digital anomalies were reported in 22 of 24 cases with deletions including at least part of region 2q24-q31. Digital anomalies were not prevalent in 18 patients with deletions of chromosome 2q not overlapping 2q24-q31. 2q31.1 appears to be the common deleted segment in all cases with significant digital anomalies, which implies the existence of one or more genes involved in distal limb morphogenesis in this region. HOXD13 and EVX2, located in the proximity of 2q31, were not deleted in our patient by Southern analysis. Bilateral digital malformations of the hands and feet associated with other anomalies should be evaluated by chromosome analysis focused at the 2q24-q31 region.

Abnormalities, Multiple↗
PubMed2006

Maternal cigarette smoking during pregnancy increases the risk of having a child with a congenital digital anomaly.

BACKGROUND: The U.S. Natality database from 2001 and 2002 was used to investigate the relationship between maternal cigarette smoking during pregnancy and the risk of having a child with polydactyly, syndactyly, or adactyly. METHODS: The records of 6,839,854 live births were examined to identify 5171 newborns with isolated polydactyly, syndactyly, or adactyly and 10,342 controls with no congenital anomalies. RESULTS: Maternal cigarette use during pregnancy was associated with a significantly elevated risk of having a child with a congenital digital anomaly (unadjusted odds ratio, 1.33; 95 percent confidence interval, 1.21 to 1.47; p < 0.0001). Univariate analysis indicated that maternal marital status and medical risk factors (anemia, cardiac disease, lung disease, diabetes, hydramnios/oligohydramnios, pregnancy-associated hypertension, incompetent cervix, previous preterm or small-for-gestational-age infant, and rhesus factor sensitization) were potential confounding factors. After adjustment for these variables, the odds ratio remained significant (adjusted odds ratio, 1.31; 95 percent confidence interval, 1.18 to 1.45; p < 0.0001). Cigarette consumption per day was divided into four groups: no smoking, 1 to 10 cigarettes per day, 11 to 20 cigarettes per day, and 21 or more cigarettes per day. A statistically significant dose-response relationship was found when comparing each smoking category with the no-smoking reference group: 1.29 (95 percent confidence interval, 1.15 to 1.46), 1.38 (95 percent confidence interval, 1.12 to 1.71), and 1.78 (95 percent confidence interval, 0.97 to 3.26), respectively. Increased cigarette smoking during pregnancy resulted in an elevated risk of having a child with polydactyly, syndactyly, or adactyly. CONCLUSIONS: This is the largest study to date to investigate specifically the association between maternal cigarette smoking and the risk of having a newborn with a congenital digital anomaly. The elevated odds ratio for tobacco use and the significant trend in the dose-response relationship suggests smoking during pregnancy may be an important preventable risk factor for these common congenital differences.

Abnormalities, Multiple↗
PubMed1987

Dose- and stage-related sex difference in the incidence of cytosine arabinoside induced digit anomalies in the mouse fetus.

Pregnant mice of the Jc1:ICR strain were injected intraperitoneally with a single dose of 2.5, 5, or 10 mg/kg of cytosine arabinoside (Ara-C) on day 9.5 or 10.5 of gestation (dg). Mice were killed on 18.4 dg, and the incidences of digit anomalies were compared between male and female fetuses. In the group treated with 10 mg of Ara-C on 9.5 dg, oligodactyly of the hindlimbs was produced more frequently in male fetuses. In the group treated with 5 mg of Ara-C on 10.5 dg, oligodactyly of the forelimbs tended to occur more frequently in male fetuses. Also, in this group, oligodactyly of the hindlimbs occurred more frequently in male fetuses, whereas polydactyly occurred more frequently in female fetuses. The observed difference in the incidences of digit anomalies between male and female fetuses may be explained either in terms of the sex-related time lag in the critical period for digit development or by a probable sex difference in embryonic susceptibility to Ara-C.

Abnormalities, Drug-Induced↗
PubMed1994

New dominant syndrome of pterygium colli, mental retardation, and digital anomalies.

We describe a proband and his mother who appear to have a new dominant syndrome of mental retardation: pterygium colli, unusual features, and digital anomalies. The craniofacial abnormalities include brachycephaly, epicanthus inversus, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low set, posteriorly rotated ears. The digits are remarkable for proximally displaced small thumbs, widened interphalangeal joints, and broad terminal phalanges.

Abnormalities, Multiple↗
PubMed2002

Septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy.

We describe a 16-year-old female affected by septo-optic dysplasia (SOD) with digital anomalies as additional feature. This rare developmental anomaly of midline brain structures can result from different pathogenetical events, including mutations of the homeo box gene HESX1, recently suggested as the etiological cause at least in a subset of patients. The absence of mutational involvement of this gene in our patient led us to consider, in alternative terms of pathogenesis, the maternal multidrug abuse occurring during pregnancy. Our report, in accord with previous experimental evidences, points out that illicit drug use might have played a causative role in brain development anomalies, thus our patient could represent an additional case of birth defects caused by a prenatal toxic exposure. The neurologic abnormalities and the clinical history of the patient are extensively reviewed. The need to include the SOD phenotype amongst the possible teratogenic effects of multidrug abuse is evidenced.

Abnormalities, Drug-Induced↗
PubMed1991

Robin sequence with facial and digital anomalies in two half-brothers by the same mother.

Two half-brothers by the same mother presented with the Robin sequence and facial and digital anomalies. The mother has a normal face and mild hyperopia without abnormality on radiographs of the hands, feet, and pelvis. The older son is 4 years and the younger is 6 months old. Both have normal psychomotor development. To the best of our knowledge this familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome. The occurrence of the syndrome in 2 half-brothers by the same unaffected mother suggests X-linked recessive inheritance.

Child, Preschool↗
PubMed1993

Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation.

We describe 2 brothers with congenital microcephaly and moderately severe mental retardation. The presence of identical and symmetrical digital anomalies suggests that this constellation represents a clinically recognizable recessively inherited mental retardation syndrome. Recognition of the clinical diagnosis should provide accurate genetic counseling to parents of a single affected child.

Abnormalities, Multiple↗
PubMed1998

Autosomal dominant inheritance of adducted thumbs and other digital anomalies.

Isolated adducted thumbs is an uncommon malformation that occurs sporadically in the majority of cases although some affected families have been reported. Previously, autosomal dominant inheritance was suggested in two familial cases, but this mode of inheritance has not been confirmed. Here we describe a family with adducted thumbs and other digital anomalies in which seven members (six females and one male) are affected in three consecutive generations. Additionally, the patients showed mild abnormalities of fingers 2nd-4th bilaterally and hypoplasia of the middle phalanx of the 5th fingers. This family represents an autosomal dominant condition that apparently has not been previously reported.

Adolescent↗
PubMed1998

Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.

We report on an 18-year-old man with moderate mental retardation, multiple congenital anomalies and partial trisomy 7q21.2-->q22.1, as the unbalanced product of a familial balanced 7q/6q insertion translocation. To the best of our knowledge, this is the first example of interstitial trisomy 7q21.2-->q22.1 reported. The syndrome is characterized by the presence of facial, oral, and digital anomalies: 1) macrocephaly with frontal bossing, hypertelorism, small palpebral fissures with downward slant; 2) lobulated tongue, multiple intrabuccal frenula, oligodontia and enamel hypoplasia; 3) cutaneous syndactyly of fingers II-III and III-IV, broad and short fingertips with fetal pads, broad thumbs, and halluces.

Abnormalities, Multiple↗
PubMed2005

Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?

Congenital malformations involving the face, oral cavity, and digits are the main findings in the oro-facio-digital (OFD) syndromes. Various eye anomalies and central nervous system involvement have also been reported in this condition. Here we report on a Brazilian boy with features belonging to the clinical spectrum of the OFD syndromes. He also had additional findings of periventricular nodular heterotopia (PVNH), asymmetric limb involvement, and microphthalmia. This unusual pattern of anomalies has not been reported previously and appears to be unique.

Abnormalities, Multiple↗
PubMed1997

Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?

We present four patients-two boys and their mother and an unrelated girl-with microcephaly, normal intelligence, and digital abnormalities. The hand abnormalities are characterized by brachydactyly with radial clinodactyly of the fourth and fifth fingers, ulnar clinodactyly of the second fingers, and an increased space between the second and third fingers associated with an abnormal palmar crease that extends to the ulnar border. The foot abnormalities include short toes with syndactyly of the fourth and fifth toes. The mother has normal intelligence, and her sons and the unrelated girl have normal development. Although similar digital abnormalities, microcephaly, and normal intelligence were described by Feingold in patients with gastrointestinal atresia, we think that our patients' findings represent a different condition. The most likely mode of inheritance is autosomal dominant. The clinical recognition of this syndrome will allow for appropriate genetic counseling as well as provision of information on natural history, i.e., normal intelligence.

Abnormalities, Multiple↗
PubMed1977

Digital anomalies of mouse limbs induced by treatment with urethan in vitro.

The effects of urethan on ICR/JCL mouse limbs were examined in forelimbs of day-11 embryos cultured in concentrations of 0, 50, and 100 mug/ml for one to four days, and in forelimbs of day-12 embryos and in fore- and hind limbs of day-13 embryos in 0, 10, 50, and 100 mug/ml for one to four days. Urethan did not cause digital malformations on day-11 limbs but induced syndactyly in day-12 forelimbs and polydactyly in day-12 forelimbs and day-13-fore- and hind limbs. The polydactyly may have been due to effects on mesenchymal cells producing localized cell proliferation, whereas syndactyly may have been due to effects on precartilage cells, resulting in excess migration of mesenchymal cells toward the digits, leaving the connective tissue at the interdigital space to develop inadequately.

Abnormalities, Drug-Induced↗
PubMed1990

Familial vocal cord dysfunction associated with digital anomalies.

Familial vocal cord dysfunction is a rare condition that has been reported in only a few instances. This is a report of identical male twins, both of whom had congenital bilateral abductor vocal cord paresis associated with finger deformities. The vocal cord paresis progressed to paralysis that required tracheotomy, then returned to a slowly resolving paresis during which the vocal cords had uncoordinated motion generally known as synkinesis. Another male sibling and the mother had a history of stridor during infancy and finger deformities. Several other relatives had digital abnormalities, and an infant first cousin with finger abnormalities required a tracheotomy for vocal cord paralysis.

Diseases in Twins↗
PubMed1996

Additional case of craniofacial and digital anomalies as reported by Harrod et al.

In 1977 Harrod et al. [BD:OAS XIII (3B): 111-115] reported 2 brothers with an unusual syndrome of mental retardation, unusual facial appearance, large protruding ears, arachnodactyly, hypogenitalism, failure to thrive, and minor anomalies. We report on a 46-year-old man with striking resemblance to the children described by Harrod who also has secondary megacolon and varicose veins, suggesting a connective tissue disorder.

Abnormalities, Multiple↗
PubMed1997

Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies.

We describe a family segregating an autosomal dominant mutation producing a syndrome comprising microcephaly with normal intelligence and short palpebral fissures together with variable signs including thumb hypoplasia, shortness of the middle phalanges of the second and fifth fingers, small feet, a gap between the first and second toes, and mild syndactyly of the toes or fingers. A characteristic radiologic finding in our family is thinning of the proximal end of the first metacarpal and shortening of that metacarpal. The severity of these findings was asymmetric in our patients. This syndrome is similar to patients described by Brunner and Winter [1991: J Med Genet 28: 389-394], Feingold [1975: Synd Ident 3:16-17, 1978: Hosp Prac 13:44-49], and König et al. [1990: Dysmorphol Clin Genet 4:83-86].

Child, Preschool↗