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PubMed1979

New chromosomal dysmorphic syndromes. 3. Partial trisomy 3q.

Chromosome analysis in a newborn, the daughter of diabetic parents, who showed multiple dysmorphic signs and malformations revealed direct duplication of a long arm segment of chromosome 3(3q2100 leads to 3q2700). Both parents have normal karyotypes. Compilation of the phenotype stigmata with those of 7 other patients and 1 fetus with partial trisomy 3q confirmed that clinical recognition of this syndrome is possible. It is characterized by hypertrichosis, typical craniofacial dysmorphia, frequent organ malformations and skeletal anomalies, as well as a peculiar dermatoglyphic pattern. It is a severe genetic disturbance, leading to death in the first months of life in many cases and only symptomatic care is advised.

Bone Diseases, Developmental↗
PubMed1977

New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome.

A mentally retarded 8-year-old boy with a de novo partial monosomy for the short arm of the No. 8 chromosome is described. Based on G-banding analysis, the patient's karyotype was identified in lymphocytes and skin fibroblasts as 46,XY,del(8) (pter leads to p21:). No chromosomal abnormalities were found in the phenotypically normal mother, father and sister of the propositus. Four further cases described in the literature indicate that partial monosomy of the short arm of the No. 8 chromosome might be associated with a syndrome characterized by the following stigmata: mental retardation, slow growth, high forehead, broad chest, wide-set nipples, pulmonary stenosis with atrial and/or ventricular septal defect, hypoplasia of the genitalia, dermatoglyphic stigmata.

Child↗
PubMed1994

Replication of asymmetry of a-b ridge count and behavioral discordance in monozygotic twins.

We have replicated an earlier study (Rose et al., Behav. Genet. 17, 125-140, 1987) relating dermatoglyphic asymmetry to intrapair discordance in a completely new sample of monozygotic (MZ) twins. Consistent results were observed for at least 31 of 37 Minnesota Multiphasic Personality Inventory (MMPI) scales tested in the two samples. Intrapair differences were confirmed to be greater in 28 MZ pairs with asymmetric palmar a-b ridge counts than in 29 MZ pairs with little or no a-b asymmetry for at least 15 scales. We also examined longitudinal stability over a 4 to 5-year period for six MMPI scales and found suggestive evidence in three scales for greater test-retest instability in twin pairs asymmetric for a-b ridge count. The results offer new evidence for our hypothesis that an asymmetric a-b ridge count may identify individuals who are poorly buffered from developmental noise, but analyses of symmetric and asymmetric a-b ridge counts in nontwin subjects are required to extend and test the hypothesis further.

Adult↗
PubMed1995

Adolescent idiopathic scoliosis as developmental instability.

Adolescent idiopathic scoliosis is the most common spinal deformity affecting children, with a prevalence from mass screening programmes of 1-3%. Despite centuries of study, it remains a problem with no generally accepted theory of aetiology, and disagreement on its natural history and management. Because the deformity consists ultimately of gross left-right asymmetry, a study was undertaken to test the hypothesis that it might be a manifestation of developmental instability. Palmar dermatoglyphics in 112 normal subjects, 62 with non-scoliosis trunk asymmetry and 85 with defined adolescent idiopathic scoliosis were examined and both the absolute right-left difference and the ratio of this to the total were considered. There was increased fluctuating asymmetry of atd difference in those with any asymmetry, scoliotic or not, and increased directional asymmetry of ab and cd ridge counts only in those with pure scoliosis. This suggests that, at adolescence, developmental instability may result in a loss of symmetry in growth, and that in the presence of an increased developmental left-right gradient, this may be of sufficient severity to be classified as deformity and come to the attention of orthopaedic surgeons. This interpretation changes the focus of many previous observations on scoliosis and raises the prospect that developmental stability in humans has relevance to problems hitherto restricted to clinical practice.

Adolescent↗
PubMedDate not supplied

Genetics of patent ductus arteriosus.

A genetic study of 119 correlative cases of patent ductus arteriosus has been performed. The isolated cases showed female predominance, but there was a three times higher risk for the sibs of male cases, suggesting a multifactorial causative mechanism. Dermatoglyphs presented an excess of arches in male, and a tendency to distal axial triradius in female. There were 15 cases belonging to polymalformative syndromes, such as mongolism, Turner, Noonan, Holt-Oram, Lewis and rubella embryopathy.

Adult↗
PubMed1994

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. and Kuroki et al. in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1:32,000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation "Kabuki" syndrome seems to be more appropriate than "Kabuki make-up" syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Acanthosis nigricans in Kabuki syndrome.

BACKGROUND: Acanthosis nigricans has been classified in different ways. All classifications depend on the clinical picture and the association with other conditions. OBJECTIVE: We report a case of acanthosis nigricans in a patient with Kabuki syndrome. This syndrome is characterized by five main manifestations: typical facial features, post natal growth deficiency, skeletal abnormalities, dermatoglyphic abnormalities, and mild to moderate mental retardation. CONCLUSION: Our case may suggest that acanthosis nigricans could be associated with Kabuki syndrome.

Abnormalities, Multiple↗
PubMed1986

Holt-Oram syndrome in China: a collective review of 18 cases.

This is a collective review of all cases of HOS reported from China. Of the 24 total cases, 18 are living and are included in this report. The clinical features, including previously undescribed associated anomalies, mode of transmission in the family, genetic characteristics, and dermatoglyphics of this familial upper limb-cardiovascular syndrome, are presented. A practical classification of the syndrome is proposed based on the relative preponderance of either upper limb deformities or cardiovascular anomalies.

Abnormalities, Multiple↗
PubMed1988

Congenital synostosis between the fourth and fifth metacarpal bones.

Congenital synostosis between the fourth and fifth metacarpals is a rare congenital anomaly. This article reports the clinical features, hand pattern profiles, and dermatoglyphics of 14 patients with congenital synostosis between their fourth and fifth metacarpals. Surgical procedures are discussed.

Adolescent↗
PubMed1995

Congenital symmetrical weakness of the upper limbs resembling brachial plexus palsy: a possible sequel of drug toxicity in first trimester of pregnancy?

We report a 14-month-old girl with a symmetrical paralysis from birth, limited to the upper limbs and resembling a severe, complete bilateral brachial plexus palsy. The presence of dimples over the wrists, shoulders and scapulae and abnormal palmar dermatoglyphics suggested an early prenatal onset. Previous reports and the course of the disease in our case suggest this sporadic condition is not progressive. Although no definitive causative factor has been identified in previously reported cases, the affection in our case is possibly related to Debendox (Bendectin) and nitrofurantoin taken in early pregnancy for nausea and renal tract infection, respectively.

Age of Onset↗
PubMed2005

Cutis laxa in Kabuki make-up syndrome.

Kabuki make-up syndrome (KMS; OMIM#147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause, first described independently by Niikawa and Kuroki. It is characterized by a peculiar facial appearance, mild to moderate mental retardation, skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. Several additional malformations (eg, cleft palate), cardiovascular defects, genitourinary and gastrointestinal tract anomalies, otologic and ophthalmologic abnormalities, and recurrent infections are also frequently present. It is mostly sporadic, although some familial cases have been reported. Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them seems to be specific to KMS. The fact that the majority of patients are sporadic and show a wide spectrum of clinical features rules out the hypothesis that KMS is a condition with a microdeletion involving several contiguous genes. We recently observed an Italian boy with typical KMS associated with cutis laxa, which, to our knowledge, is an uncommon finding in KMS, never reported in more than 350 KMS cases previously described in the literature.

Abnormalities, Multiple↗
PubMed2005

Pattern influence on the fingers.

In this study dermatoglyphic traits in 16 populations in northern Hungary were examined. The occurrence and probability of the manifestation of finger pattern types were analysed. Certain relationships were found that show that if a given pattern type is present on one of the fingers, then, in these cases, the frequency of pattern types on the other nine fingers typically is different from that in the entire sample. We termed this relationship or effect; pattern influence. In most cases there was a strong significant difference in frequency values between the entire sample and the studied cases. We studied the relationship of populations and pattern types using correspondence analysis. In the entire sample, most populations are located around the ulnar loop and the whorl. This arrangement is significantly and typically different in pattern-influence cases. Most populations aggregated around the pattern type in which pattern influence was studied. Pattern influence was found in all populations studied, and in both sexes.

Dermatoglyphics↗
PubMed1975

The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome.

Eight patients in three families had mental retardation, characteristic facies and hands, and skeletal changes; the clinical features suggested to us that they had a syndrome previously thought to represent two entities described by Lowry and associates and by Coffin and associates, respectively. New findings include skeletal, orodental, and dermatoglyphic abnormalities and histopathologic changes suggesting that the syndrome is a heritable disorder of connective tissue. Severe expression in males and transmission through mildly affected females suggest X-linked or sex-influenced autosomal dominant inheritance.

Adolescent↗
PubMed1981

Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

A previously unrecognized mental retardation malformation syndrome was observed in five unrelated Japanese children. Consistent clinical features included moderate-to-severe mental retardation, progressive dwarfism of postnatal onset, a peculiar facies characterized by long palpebral fissures, with eversion of the lateral third of the lower eyelids, arched eyebrows, broad and depressed nasal tip, large prominent earlobes, short fifth fingers, abnormal dermatoglyphics including absence of digital triradius c or d, and frequent otitis media in infancy. Inconsistent abnormalities included epicanthal folds, cleft or high-arched palate, widely spaced teeth, low occipital hair line, scoliosis, and dislocation of the hip joint. Neither familial occurrence nor parental consanguinity was noted. The etiology of the malformation syndrome remains unknown.

Abnormalities, Multiple↗
PubMed1998

A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis.

We describe a woman with a probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. Other findings included syndactyly, typical facies, dental abnormalities, dermatoglyphic hypoplasia, epidermal ridge sweat pore count slightly below normal, and keratosis pilaris. Clinical studies and genetic analysis excluded the diagnosis of tuberous sclerosis in our patient. We conclude that she has ectodermal dysplasia associated with mental retardation. This association has been described previously; it suggests the possible interrelationship of a community of ectodermal dysplasia syndromes with a distinctive structural hair abnormality (pili torti et canaliculi), variable midfacial malformations, limb defects, and other features such as mental retardation. The similarity of our patient to that described by Whiting et al. and Abramovits-Ackerman et al. suggests the autonomy of this syndrome.

Adult↗
PubMed2003

Neurocognitive, behavioural and neurodevelopmental correlates of schizotypy clusters in adolescents from the general population.

INTRODUCTION: Studies on the neurocognitive correlates of schizotypy dimensions have found inconsistent results. This might stem from the fact that correlational methods, in contrast to cluster analysis, do not account for the possibility that a subject presents high scores on more than one dimension simultaneously. We aimed to establish clusters of normal adolescents based on schizotypy dimensions and compare them on neurocognitive, behavioural, and neurodevelopmental markers. METHODS: Two hundred seventy normal adolescents from the general population (mean age 13.4, SD=0.72) attending obligatory education were evaluated. RESULTS: A K-means iterative cluster analysis was performed with the Perceptual Aberration, Revised Social Anhedonia and Physical Anhedonia Scales. A forced four-cluster model yielded the following clusters: 'negative schizotypy', 'high or mixed schizotypy', 'positive schizotypy', and 'normal scorers'. Comparisons with ANOVAs showed that 'high schizotypes' performed poorly on neurocognition (Wechsler Intelligence Scales for Children-Revised (WISC-R) and Verbal Fluency (FAS)) and obtained the highest teacher ratings (TRF) of behavioural problems. 'Negative schizotypes' had the worst WCST results and more dermatoglyphic abnormalities. Both clusters had more neurological soft signs than 'normal scorers' and 'positive schizotypes'. CONCLUSIONS: Our results with community adolescents found the same cluster structure than the previous cluster analytic studies conducted in adult college subjects. Furthermore, we showed differences among them on neurocognitive and malneurodevelopment markers consistent with the adult literature on schizotypy.

Adolescent↗
PubMed1984

Zygosity testing: laboratory and the investigator's judgment.

The immediate global impressions of zygosity (based upon physical similarity) were recorded by the investigator at initial meetings with 105 pairs of twins. The accuracy of these ratings, as well as classifications provided by two objective procedures (physical resemblance questionnaire; dermatoglyphic analyses) and two subjective procedures (parental impressions; physician's impressions), were evaluated by comparison with results from bloodtyping for 53 pairs. The judgments of the investigator furnished the most accurate indication of zygosity (94-96% accuracy). Laboratory tests were repeated for five pairs when the results proved incompatible with the investigator's ratings. In all five cases, the investigator's judgments were confirmed, indicating that a laboratory error had occurred. It appears that the opinion of a skilled observer of twins can provide a convenient and highly effective alternative to bloodtyping.

Blood Grouping and Crossmatching↗
PubMed1979

Variability of plantar zygodactylous triradii in monozygotic and dizygotic twins.

Using a special method, the dermatoglyphics of the plantar interdigital areas of 86 monozygotic and 76 dizygotic Polish twin pairs were obtained. The frequencies of different types of zygodactylous triradii were estimated using a recently published new scheme of classification. The second, third, and fourth interdigital areas were grouped together. The findings indicate a high heritability which suggest that zygodactylous triradii might be used as a valuable genetic marker.

Dermatoglyphics↗