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PubMed1995

Intrapair differences in personality and cognitive ability among young monozygotic twins distinguished by chorion type.

We evaluated placentation effects on behavioral resemblance of 44 pairs of monozygotic (MZ) twin children. Tested at ages 4-6, the twins' zygosity and placental type had been determined at their delivery. The sample included 23 monochorionic (MC) and 21 dichorionic (DC) MZ twin pairs: DC-MZ twins result from separation of blastomeres within 72 h of ovulation; MC-MZ twins arise from later duplication of the inner cell mass. Twins were individually administered the McCarthy Scales of Cognitive Ability, while their mothers separately rated each cotwin on an individualized 280-item form of the Personality Inventory for Children (PIC). Absolute differences between MC-MZ cotwins were smaller than those between DC-MZ cotwins for all 20 PIC scales, significantly so for 3 of 4 factor scales, 8 of 12 clinical scales, and 2 of 4 validity/screening scales from the PIC; in contrast, no consistent differences in intrapair resemblance of mono- and dichorionic MZ twins were found for the McCarthy Scales. The chorion differences found in the PIC data cannot be due to genetic differences, because all pairs are monozygotes; nor are they associated with differences in parity, gestational age, birth weight, maternal education, palmar dermatoglyphic asymmetry, or maternal knowledge of chorion type. We interpret our findings as suggestive evidence that variation in timing of embryological division, with effects on MZ twins' placental vasculature, has significant consequences for some dimensions of their behavioral development, as well.

Child↗
PubMed2002

[Congenital bullous poikiloderma (Kindler syndrome)].

We report on an 18 years old female patient who presented with synechia of the labia. History reveals congenital blistering with acral localization and photosensitivity in childhood. At present, the patient showed wide-spread poikoloderma with reticulate hyperpigmentation, xerosis, proximal synechia between fingers and toes and absence of dermatoglyphics, suggestive for congenital bullous poikiloderma (Kindler syndrome). The diagnosis was confirmed by histology and electron microscopy. Kindler syndrome is a rare, autosomal recessive disorder with synechia of mucosal areas being the presenting symptom.

Adolescent↗
PubMed2004

[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment].

The Niikawa-Kuroki syndrome is a rare syndrome characterized by multiple congenital anomalies, mental retardation, postnatal growth deficiency, dermatoglyphic abnormalities and a characteristic facial appearance. More than 100 cases of the syndrome have been described in Europe. Here we report a 10 year old girl with this syndrome. Recurrent infections of the middle ear as well as delayed motor and speech development were present. The physiognomy since early infancy showed a flat profil, long palpebral fissures, long eyelashes, high arched eyebrows, missing lateral incisors and persistent fetal pads on the fingers. The patient was referred to us because of hearing impairment. Her parents also described a delayed motor development, mental retardation and a language impairment. Audiometry demonstrated a pantonal hearing loss. Since children affected by this syndrome may also have a severe hearing impairment early testing is mandatory.

Abnormalities, Multiple↗
PubMed1998

Kabuki make-up syndrome and report of a case with hydrocephalus.

We report a 22-year-old man with hydrocephalus caused by aqueductal stenosis. The patient was diagnosed with Kabuki make-up syndrome based on associated findings such as a peculiar facies, postnatal growth deficiency, brachydactyly of the fifth fingers, undescended testes, and malrotation of the colon. Kabuki make-up syndrome, recognized in Japan in 1981, is characterized by five cardinal manifestations: a peculiar facies, skeletal anomalies, dermatoglyphic anomalies, slight to moderate mental retardation, and postnatal dwarfism. Neurological anomalies have been reported to include neonatal hypotonia, feeding problems, seizures, West syndrome, microcephaly, brain atrophy, GH deficiency, precocious puberty, delayed sexual development, and diabetes insipidus. Aqueductal stenosis may be caused by part of the series of midline anomalies. Physicians should pay attention to associated anomalous characteristics suggesting a malformation syndrome when they encounter nontumoral aqueductal stenosis in adolescents or adults.

Abnormalities, Multiple↗
PubMed2003

The effect of training in male prepubertal and pubertal monozygotic twins.

Nine male pairs of monozygotic twins aged 11-14 years, height 147 (7.6) cm and body mass 39.7 (9.6) kg, participated in this study. Twin zygocity was tested using morphological, dermatoglyphic and hematologic methods, and Tanner's five stages were used for the evaluation of biological maturation. One twin from each pair undertook training for 6 months, three times a week, with running at 85-120% of the lactate anaerobic threshold (LT). Anthropometrics, determination of maximum O(2) uptake (.VO(2max)), LT and maximal blood lactate concentration ([La](max)) was carried out before, during and after training. No significant difference existed between the trained twins and their untrained brothers before training. After training, the trained twins increased their .VO(2max), (per kg body mass) by 10.6% and their LT by 18.2% (P<0.01), reaching values that differed significantly from those of their untrained brothers [57.5 (3.6) ml.kg(-1).min(-1) vs 55.4 (3.3) ml.kg(-1).min(-1) and 13.4 (1.1) km.h(-1) vs 12.7 (1.1) km.h(-1), respectively]. In addition, in the trained twins relative body fat was reduced (P<0.05) from 17.8 to 16.2% and their somatotype altered significantly (decrease of endomorphy and mesomorphy and increase of ectomorphy), while in the untrained twins there was no change in these parameters. Both groups of twins significantly increased their absolute .VO(2max) after the 6 months of training, the trained by 14,9% [from 2.08 (0.43) to 2.37 (0.45) l.min(-1)] and the untrained by 10.5% [from 2.10 (0.41) to 2.32 (0.47) l.min(-1)], but no difference was registered between them. A comparison of the intrapair changes in .VO(2max) of prepubertal and pubertal twins showed an influence of training in the prepubertal (19.3% vs 5.2%) but not in the pubertal twins (12.7% vs 13.1%). Using analysis of variance, the relative importance of training, heredity and their interaction was evaluated to be 20%, 70% and 10%, respectively, for the change in body fat, 35%, 45% and 20%, respectively, for the change in relative .VO(2max) and 25-30%, 50-60% and 15-20%, respectively, for the change in LT. In conclusion, training during pubertal growth can favour aerobic power (depending on body composition) as well as aerobic capacity, but it has no effect on absolute .VO(2max). Genetic control seems to have a strong effect on the extent of adaptations, and the genotype-training interaction explains a small, but prominent part of them.

Adaptation, Physiological↗
PubMed1975

Nictitating membrane in trisomy 18 syndrome.

A 2,290-g infant boy born after a 43-week gestation had the classic, somatic, and dermatoglyphic findings of trisomy 18 (Edwards) syndrome. The diagnosis was established cytogenetically. A bilateral nictitating membrane was present. In contrast to those in lower species this membrane was established horizontally and moved cephalad for closure. Thus, the membrane occasionally coverd the conjunctiva and cornea completely, giving the impression of corneal clouding. Postmortem studies were not permitted.

Animals↗
PubMed1988

The Lenz microphthalmia syndrome.

We examined two patients with the Lenz microphthalmia syndrome. When findings from these two patients and those from ten other patients in the literature were combined, the following abnormalities were observed: microphthalmos in all patients; developmental retardation in 11 patients (92%); external ear abnormalities in ten patients (83%); microcephaly in ten patients (83%); blepharoptosis in nine patients (75%); skeletal anomalies (excluding digital anomalies) in eight patients (67%); dental abnormalities of number and position in eight patients (67%); digital anomalies in seven patients (58%); urogenital anomalies in six patients (50%); and cleft lip and palate abnormalities in four patients (33%). Cardiac anomalies, imperforate anus, hearing loss, spastic diplegia, sacral pits, webbed neck, and abnormal dermatoglyphs were rarely seen. One of our two patients had a dislocated lens and retinal detachment.

Abnormalities, Multiple↗
PubMed1996

Developmental asymmetries in experimental animals.

The early embryo orients to the antero-posterior axis and differentiates along this, and the dorso-ventral and lateral axes. From Drosophila melanogaster, detailed knowledge has accrued of how segmentation and dorso-ventral differentiation proceed, and of their genic control, mostly by selector and homeobox (Hox) genes. The study of the control of lateral differentiation, instead, has been largely neglected. Yet handed asymmetry (the "obvious" asymmetries of, for example, heart, lung, anatomical features of the nervous system, etc.) is basic and, possibly, universal. In the mouse, two genes control this: the iv gene which, when mutated, leads to random, in the place of biased, asymmetry and so to random situs inversus viscerum: and the inv mutation which, by contrast, results in 100% situs inversus. Both mutants act as autosomal recessives. Human situs inversus is heterogeneous and may be akin to that produced by the murine iv gene. In spite of situs inversus, there is no shift of hand preference; but there is no information on other lateralization, e.g. of language or of dermatoglyphic patterns. Handed asymmetry is known in Drosophila, but there is no information on its control. In the experimental nematode, Caenorhabditis elegans, asymmetry arises when differently programmed cells arrange themselves to the two body sides, and is present already at the six-cell stage; and even the major sensory neurons chains along the body axis are distributed unequally on the two sides of the worm. Experimentally, by embryonic micro-manipulation or the use of chemical mutagens, the normal and invariate direction of handed asymmetry can be reversed.

Animals↗
PubMed1993

Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations.

BACKGROUND: The Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is rare; only three families have been reported. OBJECTIVE: Our purpose was to determine the natural history of this ectodermal dysplasia and to delineate further its clinical manifestations. METHODS: We reexamined the original family with the NFJ syndrome 65 years after the first description. RESULTS: The pedigree includes 62 members with 14 affected patients. We examined the 10 living patients. Longitudinal analysis of the pedigree revealed that the reticulate pigmentation fades after puberty and may disappear completely in old age. Hypohidrosis, the main problem for the patients, remains constant. Teeth are always severely affected, leading to early total loss. All patients lack dermatoglyphics. Diffuse palmoplantar keratoderma may coexist with punctate keratoses that are sometimes accentuated in the creases or exhibit a linear pattern. Four patients had congenital malalignment of the great toenails, not described previously in association with the NFJ syndrome. CONCLUSION: The NFJ syndrome is an ectodermal dysplasia with numerous specific abnormalities.

Adult↗
PubMed2004

Considering schizophrenia from a prevention perspective.

Schizophrenia is a serious mental illness that causes major disability and psychosocial impairment. Recent advances in the neurosciences are prompting considerations of schizophrenia from a preventive perspective. An overview of the literature is provided on two important aspects of the development of a prevention orientation in schizophrenia research: elucidation of potential causal risk factors for schizophrenia and research on risk markers. Risk factors for schizophrenia include, but are not limited to, family history, older paternal age, velo-cardio-facial syndrome, maternal infections during pregnancy, pregnancy and delivery complications, and social adjustment difficulties in childhood and adolescence. Potential risk markers include structural brain pathology, minor physical anomalies and dermatoglyphic abnormalities, neurocognitive deficits, eye-tracking dysfunction, certain electrophysiologic findings, and olfactory identification deficits. Several early efforts at indicated preventive interventions targeting individuals at particularly high risk for developing the disorder are discussed. The preventive medicine and public health disciplines may have a role in future research and interventions that apply a preventive perspective to schizophrenia and other mental illnesses. Like any other chronic medical condition, schizophrenia can be considered from a preventive perspective.

Early Diagnosis↗
PubMedDate not supplied

Down syndrome: clinical profile from India.

BACKGROUND: Our objective was to study demographic features, clinical features, and karyotype analyses of patients with Down syndrome (DS). Our study design was a retrospective analysis, while the study was conducted in the Genetic Clinic of a tertiary-care teaching hospital. METHODS: Retrospective analysis of cases referred to the Genetic Clinic was performed. Case proformas of the patients presenting with phenotypic features of DS were analyzed. The following information was recorded from the proformas: age at presentation; sex; maternal age; craniofacial and other physical features; presence and type of congenital heart disease; gastrointestinal abnormalities, and results of cytogenetic evaluation. Clinical features in neonates with DS were separately analyzed. RESULTS: Analysis included cases of DS presenting over a period of 7.5 years; a total of 524 patients were studied (303 males and 221 females; M:F ratio 1.37:1). Average age at presentation was 19.4 months (range: 1 day-26 years). Average maternal age at birth of the affected child was 26.8 years (range: 16-45 years). Craniofacial features noted in >50% of the cases included mongoloid slant (83.9%), ear abnormalities (66.9%), epicanthic folds (56.9%), and flat facial profile (50.9%). A total of 76.3% cases had hypotonia. Characteristic limb and dermatoglyphic anomalies were seen in less than one half of cases. These included sandle sign (46.2%), unilateral or bilateral simian crease (33.2%), clinodactyly (36.1%), and brachydactyly (11.1%). Ophthalmologic abnormalities included hypertelorism (33.9%), nystagmus (3.2%), Brushfield spots (3.2%), squint (2.7%), and cataracts (1.9%). Congenital heart disease was clinically diagnosed in 96 cases (18.3%). The nature of the cardiac defect was ascertained by color Doppler examination and/or 2D-echocardiography in 58 cases. The most common cardiac anomalies were ventricular septal defect (25.8%), tetralogy of Fallot (15.5%), and atrial septal defect (12.1%). Gastrointestinal anomalies were noted in seven cases and included three cases with imperforate anus, two with Hirschsprung disease, and one each with duodenal atresia and Morgagni hernia. Results of cytogenetic abnormalities were available in 42.2%. Free trisomy (non-dysjunction) was present in 95%, 3.2% had translocation, and 1.8% were mosaics. In neonates, common features noted were mongoloid slant, ear abnormalities, flat facial profile, hypotonia, sandle sign, and clinodactyly+/-brachydactyly. CONCLUSIONS: All characteristic craniofacial and physical features of DS need not be present in every case. Major features noted in the present study were mongoloid slant, ear abnormalities, epicanthic folds, flat facies, and hypotonia. Congenital heart disease was present in 18.3% of cases, with ventricular septal defect being the most common type of defect. Non-dysjunction was the most common cause of the chromosomal anomaly.

Adolescent↗
PubMed2006

Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.

We report on a 13-year-old girl with normal karyotype and a de novo cryptic terminal deletion of chromosome 2q, detected by subtelomeric FISH analysis. Further investigation with array-CGH analysis using the 1Mb resolution Spectral Chip 2600 (Spectral Genomics) confirmed the deletion and also showed a deletion of four additional clones. No other abnormalities were detected by array-CGH. FISH studies using 8 BAC-probes were performed for fine mapping of the deletion and confirmed the array results. FISH analysis showed that the deletion breakpoint lies between clones RP11-84G18 and RP11-83N2 (physical distance between clones 0.36Mb) and extends to the telomere. The size of the deletion was estimated to be about 6.4-6.7Mb. Clinical findings include: developmental delay, severe behavioural disturbances, growth-pubertal retardation, congenital conductive mild hearing loss, growth hormone deficiency, compensate hypothyroidism, dysmorphic facial features, excessive joint hypermobility, brachymetaphalangy, abnormal dermatoglyphics and a history of neonatal laryngomalacia, hypotonia and umbilical hernia. The phenotype of our patient is in keeping with those of the literature, with the exception of cardiovascular, urogenital, neurological anomalies and eczema, which were not observed. The report of the clinical and molecular presentation of similar cases will allow accurate phenotype-genotype correlation and proper genetic counseling of the family.

Abnormalities, Multiple↗
PubMed2005

Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings.

There is now good evidence that human sex-typed behavior is influenced by sex hormones that are present during prenatal development, confirming studies in other mammalian species. Most of the evidence comes from clinical populations, in which prenatal hormone exposure is atypical for a person's sex, but there is increasing evidence from the normal population for the importance of prenatal hormones. In this paper, we briefly review the evidence, focusing attention on the methods used to study behavioral effects of prenatal hormones. We discuss the promises and pitfalls of various types of studies, including those using clinical populations (concentrating on those most commonly studied, congenital adrenal hyperplasia, androgen insensitivity syndrome, ablatio penis, and cloacal exstrophy), direct measures of hormones in the general population (assayed through umbilical cord blood, amniotic fluid, and maternal serum during pregnancy), and indirect measures of hormones in the general population (inferred from intrauterine position and biomarkers such as otoacoustic emissions, finger length ratios, and dermatoglyphic asymmetries). We conclude with suggestions for interpreting and conducting studies of the behavioral effects of prenatal hormones.

Adrenal Hyperplasia, Congenital↗
PubMed2005

Prenatal programming of behavior: a twin-study perspective.

This paper reviews three designs that compare co-twins in tests of prenatal programming. The first design uses co-twin comparisons to attempt within-family replications of between-family associations, reported in non-twins, between reduced fetal growth and risk for later disease or behavior disorder. These replication efforts are mixed, perhaps due to small samples of weight-discordant twins, perhaps confounded by differences in the meaning of fetal growth in twins. The second design compares monozygotic co-twins from pairs differing in their placentation, with some evidence, again constrained by sample limitations that twins sharing a single placenta are more alike in dimensions of cognitive ability and personality. A third design employs a dermatoglyphic index of bilateral asymmetry as a marker of reduced buffering from environmental noise, with positive results from MZ twins that await necessary replication in longitudinal data from non-twins. Twin comparisons, especially the comparisons of monozygotic co-twins, offer an informative and incisive approach for research on prenatal programming in humans.

Child Behavior Disorders↗
PubMed2006

Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome.

Kabuki syndrome is a rare dysmorphic disorder characterized by peculiar facial appearance, developmental delay, skeletal abnormalities, mental retardation, and dermatoglyphic abnormalities. Neurologic anomalies are frequently observed. This report presents a 2-year-old male with Kabuki syndrome who had a quadrigeminal cistern arachnoid cyst: the second case of such an association to be reported in the literature.

Arachnoid Cysts↗
PubMed2004

Digit length ratios predict reactive aggression in women, but not in men.

Considerable evidence suggests that digit length and dermatoglyphic asymmetry patterns in the hand are affected by early exposure to androgens. Because androgens play an important role in sexual differentiation of morphological and behavioral traits, digit length patterns often display sex differences. When present, sex differences in digit lengths are more pronounced on the right side as compared to the left side. Moreover, the ratio of the second to fourth digit length (2D:4D) in the right hand is inversely correlated with testosterone (T) in men. Because T is implicated in agonistic behavior, 2D:4D may be used as a marker of androgen exposure and subsequent behavioral variation in adulthood. Consequently, we investigated the relationships among 2D:4D, directional asymmetry of 2D:4D (left hand 2D:4D minus right hand 2D:4D) as a variant of T, and human reactive aggression. One hundred young men (n = 51) and women (n = 49) participated in our experiments (mean age = 20.1 years). Participants called two noncompliant confederates to solicit donations for a fictitious charity organization and selected follow-up letters after the calls. The force exerted when hanging up the phone and the "tone" of the follow-up letters were used to assess reactive aggression. High aggression scores were associated with high directional asymmetry of 2D:4D and masculinized (low) right hand 2D:4D, only in females and under high provocation. Directional asymmetry of 2D:4D was positively correlated with T in males (pooled data, n = 97). Taken together, these data confirm the predominantly right-sided influence of androgens on digit length and suggest that digit length ratios may be associated with female reactive aggression when sufficient provocation is present.

Adult↗
PubMed1979

Fatal neonatal nemaline myopathy with multiple congenital anomalies.

The clinical course and autopsy findings in a patient with fatal neonatal nemaline myopathy are described. A hypotonic infant required mechanical ventilatory support immediately following delivery and developed progressive congestive heart failure. He had mild facial dysmorphism, a high-arched palate, clinodactyly, short first metacarpals, abnormal dermatoglyphics, simian creases, and bilateral talipes varus. Light and electron microscopic study of a muscle biopsy was diagnostic of nemaline myopathy. Autopsy revealed a papillary muscle anomaly, myocardial scarring, and hepatic fibrosis. The severe clinical impairment in this infant and the unusual associated anomalies are compared with other examples of nemaline myopathy. Nemaline myopathy is a cause of respiratory insufficiency in the neonatal period.

Abnormalities, Multiple↗
PubMed1981

A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

Five unrelated patients with a previously unrecognized mental retardation malformation syndrome are presented. Clinical features common to them include moderate mental retardation, postnatal dwarfism, susceptibility to infection in infancy, and peculiar craniofacial dysmorphia characterized by long palpebral fissures, high-arched and abnormal eyebrows, heavy and long eyelashes, large ears, short nasal septum and/or depressed nasal tip, and cleft palate. Other anomalies are stubby fingers, deformed vertebra and other bone and joint anomalies, and abnormal dermatoglyphics. The absence of familial occurrence and of consanguinity suggests some environmental causation, but the possibility of an autosomal dominant or X-linked mode of inheritance remains. Based upon our five patients and other five of Niikawa et al, we propose this syndrome as a new disease entity.

Abnormalities, Multiple↗