Dermatoglyphics of congenital abnormalities without chromosomal aberrations. A review of the clinical applications.

This review outlines the dermatoglyphics of congenital abnormalities without chromosomal aberrations. When combined with other clinical features of a particular disease, dermatoglyphics can serve to strengthen a diagnostic impression and may be useful as a screening device to select individuals for additional diagnostic studies.     

SCREENING FOR AUTOSOMAL ABERRATIONS

Abstract. A method of screening for autosomal aberrations is important as an indication for chromosome analysis such as that used in sex-chromatin examination for sex chromosome aberrations. In our clinic, malformed patients with mental retardation and abnormal dermatoglyphic patterns are strong suspects for autosomal aberrations. Abnormal dermatoglyphic patterns are separated into two categories: (1) Absolutely abnormal—radial loop of 1st finger, radial loop of 4th finger, radial loop of 5th finger, arch over 6 fingers, arch tibial, loop tibial, and arch fibular; (2) Borderline abnormalities—high axial triradius (t' and t"), simian crease, interdigital loop, and single crease of 5th finger. Of 416 cases showing malformation, retardation, and abnormal dermatoglyphics, 308 had autosomal aberrations, while 108 had normal karyotypes. In the group with autosomal aberrations, 279 patients (90.6%) had absolutely abnormal dermatoglyphics. In the group with normal karyotypes only 8 patients (7.4%) had absolutely normal dermatoglyphics, while most had abnormal dermatoglyphics in the borderline category. These clinical manifestations: absolutely abnormal dermatoglyphics, mental retardation, and malformations are therefore very useful in screening for autosomal aberrations.     

Partial trisomy of the long arm of the chromosome no. 6 (author's transl)]

The clinical features of a new chromosomal syndrome are described. The patient, a 10(9)/12 years old girl, presents a marked psychomotor retardation with short stature, microcephaly, myopia, alterations in dermatoglyphics, and some other dysmorphic signs.     

Lack of evidence for craniofacial dysmorphism in perinatal human immunodeficiency virus infection

Thirty children perinatally exposed to human immunodeficiency virus (HIV) infection and 30 healthy control subjects matched for age, sex, and race were evaluated for growth, head size, craniofacial dysmorphism, dermatoglyphics, and other physical features. Thirteen patients met the criteria for group IV (constitutional, neurologic, and secondary infectious diseases), 14 for group III (persistent generalized lymphadenopathy or hepatosplenomegaly), and three for group II (asymptomatic infection) of the classification of HIV infection established by the Centers for Disease Control, Atlanta. Postnatal growth failure and microcephaly, observed in a significant proportion of patients (46.7% and 30%, respectively), could be attributed to chronic illnesses and to progressive central nervous system lesions in HIV-infected patients. There were however, no significant differences between patients and controls with regard to the incidence of craniofacial features and dermatoglyphics, and the incidence of other anomalies was not different from that expected in the population. The patients born to drug-using mothers were not different from those born to non-drug-using mothers in relation to the studied criteria. We could not confirm the presence of characteristic craniofacial dysmorphism in children exposed to perinatal HIV infection.     

The clinical significance of multiple hair whorls and their association with unusual dermatoglyphics and dysmorphic features in mentally retarded Israeli children

The prevalence of multiple hair whorls in a group of mentally retarded patients was 8% as opposed to 3.6% in a group of healthy children. A statistically significant relationship was demonstrated between mental retardation, multiple hair whorls, more than two dysmorphic features, and unusual dermatoglyphics. The results confirm the importance of multiple hair whorls as a genuine dysmorphic feature. The significance of these markers in the evaluation of mentally retarded subjects is discussed, with special reference to the timing of the fetal insult.     

Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome

A 10-year-old boy and his 9-year-old sister, with abnormalities of distal phalanges of hands and feet, onychodystrophy, deafness, mental retardation, seizure disorder, and abnormal dermatoglyphics, are described. Six similarly affected patients have been reported. These eight patients represent a new syndrome, which is inherited as an autosomal recessive trait.     

3-M syndrome in two sisters

3-M syndrome is a rare, autosomal recessive dwarfing syndrome characterized by prenatal growth restriction, facial dysmorphism and absence of both microcephaly and mental retardation. The term 3-M syndrome originates from the common initial of the first three authors of the first report. The diagnosis is established by a combination of clinical history, clinical examination and radiographic findings. The present report shows two sisters whose facial features were slightly different from those usually reported. In addition, they presented with small nails and abnormal dermatoglyphics. The present report expands the phenotypic spectrum of 3-M syndrome.     

Fingerprints in congenital rubella following maternal gamma globulin.

The fingertip skin ridge patterns of ten children with the congenital rubella syndrome whose mothers had received gamma globulin following exposure to german measles during pregnancy were compared with those of 29 patients whose mothers had not received gamma globulin and with those of 162 control children. Statistical evaluation of the pattern profiles by the Mann-Whitney U-test showed that the dermatoglyphics of the two groups of patients differed significantly from each other. Each group also differed from the control children: there was a significant (p less than 0.001) increase in whorls in patients whose mothers had not had gamma globulin, but an increase (p = 0.001) in ulnar loops in those whose mothers had received gamma globulin.     

The Aase syndrome

A 5-month-old boy with congenital hypoplastic anaemia and triphangeal thumbs, known as the Aase syndrome, is described. In addition he had unilateral cleft lip and palate and abnormal dermatoglyphics.Only ten cases have been reported previously; these are reviewed. This case is the third patient reported to have the Aase syndrome who also has a cleft lip. Bone marrow cultures failed to stimulate production of erythropoietic precursors.Abbreviations CHA congenital hypoplastic anaemia - TAR radial aplasiathrombocytopenia syndrome - WBC white blood cell count - CFU-GM Colony forming units of the granulocytic and monocytic cell line - CFU-E Colony forming units of the erythrocytic cell line - BFU-E burst forming units of the erythrocytic cell line     

THE AARSKOG SYNDROME

Abstract. Oberiter, V., Kadrnka Lovrenc'i, M., Schmutzer, Lj. and Kraus, O. (Department of Paediatrics and Department of Urology, Dr. Mladen Stojanovi University Hospital, Zagreb, Yugoslavia). The Aarskog syndrome. Acta Paediatr Scand, 69: 567, 1980.—The Aarskog syndrome is characterized by short stature, peculiar facies, shawl scrotum, cryptorchism, broad, short hands and hyperextensibility of the proximal interphalangeal joints. A boy with typical features of the Aarskog syndrome is presented. The proband's mother, sister and grandmother were short and strongly resembled him. Palmar dermatoglyphics showed the presence of whorls in the interdigital areas of the affected mother and son and the absence of this pattern on the palms of the sister.     

Dermatoglyphic findings in congenital clubfoot

ABSTRACT  The dermatoglyphics of the hand of 33 male and 17 female, a total of 50 patients with congenital clubfoot deformity (CFD) were compared with those of 250 male and 250 female, a total 500 control cases. The most remarkable dermatoglyphic findings observed in CFD were the decreased frequency of ulnar loops and the increased frequency of whorls on all fingers, the decreased frequency of ulnar loops on the left long finger and ring finger and the right thumb, long finger and little fingers, the increased frequancy of whorls on the left long finger and the right thumb, long finger, ring finger and little fingers, the decreased frequency of palmar IV loops and the increased frequency of Ĥ loops and t triradii and the decreased frequency of plantar Î and loops and the increased frequency of the p and p" triradii on the soles.     

Dermatoglyphic alterations associated with acute rheumatic fever in children

The dermatoglyphic configurations of 78 children with acute rheumatic fever were compared with those of 46 first-degree relatives and 1,310 normal subjects. Of the children with acute rheumatic fever, 75% had an ulnar deviation of the axial triradius. In about 40% of this group, the ulnar deviation was associated with a concomitant distal displacement, which resulted in a significantly higher mean maximal angle atd (P less than .001) and significantly lower mean ab and td ridge counts (P less than .001) relative to normal control values. The palmar dermatoglyphics of patients with acute rheumatic fever were more closely related to the configurations of first-degree relatives than to normal controls. The dermatoglyphic profiles of six patients were nearly identical to those of their first-degree relatives, all of whom had a history of acute rheumatic fever. Presence of abnormal dermatoglyphic profiles in a large proportion of children with acute rheumatic fever supports the hypothesis that certain individuals have a genetic predisposition to this disease.     

FINGERPRINTS IN CONGENITAL RUBELLA FOLLOWING MATERNAL GAMMA GLOBULIN

Abstract. Ross, L. J. (Departments of Pediatrics, New York University Medical Center, New York, U.S.A.). Fingerprints in congenital rubella following maternal gamma globulin. Acta Paediatr Scand, 68: 71, 1979.—The fingertip skin ridge patterns of ten children with the congenital rubella syndrome whose mothers had received gamma globulin following exposure to german measles during pregnancy were compared with those of 29 patients whose mothers had not received gamma globulin and with those of 162 control children. Statistical evaluation of the pattern profiles by the Mann-Whitney U-test showed that the dermatoglyphics of the two groups of patients differed significantly from each other. Each group also differed from the control children: there was a significant ( p >0.001) increase in whorls in patients whose mothers had not had gamma globulin, but an increase ( p =0.001) in ulnar loops in those whose mothers had received gamma globulin.     

Trisomy 8 mosaicism syndrome.

Chromosome 8 is the largest autosome thus far found to be trisomic among liveborn infants. Trisomy 8 "mosaicism" syndrome (T8mS) consists primarily of individuals whose chromosome complement is mosaic for chromosome 8 (T8m), i.e., patients with a chromosomally normal cell line in addition to the trisomic 8 cell line, and a few known individuals with full trisomy 8 (T8), i.e., each cell observed contains an extra chromosome 8. Reported cases of both types share a number of common features and thus have helped to delineate a new syndrome. Common features of T8mS include mild-to-moderate mental retardation, strabismus, osseous and soft tissue abnormalities, lowset and/or malformed ears, broad bulbous nose, palate deformity, various types of congenital cardiovascular disorders, hydronephrosis, cryptorchidism, and characteristic dermatoglyphics. Since chromosomal mosaicism is often present in this syndrome it is not surprising that considerable phenotypic variation exists. The present report of one of the youngest individuals yet described with T8m adds two more physical findings (dense corneal clouding and a heretofore undescribed clavicular deformity) to the constellation of abnormalities associated with T8mS. On the basis of the phenotypic and cytogenetic findings in this and 17 similar patients previously reported it is proposed that T8mS is a distinct clinical entity.     

Aetiology of idiopathic scoliosis: current concepts

The aetiology of the three-dimensional spinal deformity of idiopathic scoliosis (IS) is unknown. Progressive adolescent idiopathic scoliosis (AIS) that mainly affects girls is generally attributed to relative anterior spinal overgrowth from a mechanical mechanism (torsion) during the adolescent growth spurt. Established biological risk factors to AIS are growth velocity and potential residual spinal growth assessed by maturity indicators. Spine slenderness and ectomorphy in girls are thought to be risk factors for AIS. Claimed biomechanical susceptibilities are (1) a fixed lordotic area and hypokyphosis and (2) concave periapical rib overgrowth. MRI has revealed neuroanatomical abnormalities in approximately 20% of younger children with IS. A neuromuscular cause for AIS is probable but not established. Possible susceptibilities to AIS in tissues relate to muscles, ligaments, discs, skeletal proportions and asymmetries, the latter also affecting soft tissues (e.g. dermatoglyphics). AIS is generally considered to be multi-factorial in origin. The many anomalies detected, particularly left-right asymmetries, have led to spatiotemporal aetiologic concepts involving chronomics and the genome altered by nurture without the necessity for a disease process. Genetic susceptibilities defined in twins are being evaluated in family studies; polymorphisms in the oestrogen receptor gene are associated with curve severity. A neurodevelopmental concept is outlined for the aetiology of progressive AIS. This concept involves lipid peroxidation and, if substantiated, has initial therapeutic potential by dietary anti-oxidants. Growth saltations have not been evaluated in IS.     

Arthrogryposis multiplex congenita mit Klinefelter-Syndrom

Zusammenfassung Bei dem Patienten L. M. wurde neben einer Arthrogryposis multiplex congenita ein Kryptorchismus bei geistiger Retardierung festgestellt. Die Chromosomenalyse ergab die für das Klinefelter-Syndrom charakteristische Chromosomenstörung (2n=47/XXY). Beim Barr-Test enthielten bei 248 analysierten Zellen der Mundschleimhaut 48 chromatinpositive Zellkerne. Die Untersuchung des Hautleistensystems zeigte im Bereich der Handflächen den für die A. m. c. typischen longitudinalen Leistenverlauf. Auf allen Fingerbeeren sowie auf den Zehenbeeren 2–5 war eine volständige Leistendysplasie vorhanden.

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Arthrogryposis multiplex congenita combined with klinefelter syndrome

Summary Arthrogryposis multiplex congenita, cryptorchism and mental retardation were diagnosed in one of our patients (L. M.). A chromosome analysis showed the abnormal karyotype which is typical for the Klinefelter syndrome (2 n=47/XXY). The examination of the sex chromatin showed that 48 out of 248 cells from the oral mucosa contained Barr-bodies in their nuclei.The dermatoglyphics of the patient disclosed the longitudinal course of ridges on the palms which is characteristic for A. m. c.On all fingertips as well as on toes 2–5 a complete dysplasia of the ridges was observed.

     

Mosaikmongolismus

Zusammenfassung 7 Kinder mit Mosaikmongolismus wurden daraufhin untersucht, ob der Grad der Manifestation von für Mongolismus typischen Merkmalen mit steigendem Anteil trisomer Zellen zunimmt. Dazu wurden für den einzelnen Patienten ermittelt: die Anzahl der vorhandenen Kardinalsymptome nach Øster (1953), Hautleistenindices nach den Methoden von Walker (1957), Beckman et al. (1965) und Greyerz-Gloor et al. (1969), Entwicklungs- bzw. Intelligenzquotienten. Die Anzahl von für Mongolismus typischen klinischen Merkmalen und die Hautleistenveränderungen korrelierten signifikant mit der Höhe des Prozentanteils trisomer Zellen. Die Kinder mit einem niedrigen Anteil trisomer Zellen zeigten eine relativ hohe Intelligenz.

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Mosaic Down's syndrome

7 children with mosaic Down's syndrome were studied with the aim to determine whether the degree of manifestations typical for Down's syndrome increases with the percentage of trisomic cells. The following data have been investigated in each individual patient: The number of cardinal symptoms according to Øster (1953). Dermatoglyphic indices according to the methods described by Walker (1957), Beckman et al. (1965), and Greyerz-Gloor et al. (1969). IQ/DQ respectively. The number of features typical for Down'syndrome and the changes in dermatoglyphics showed a singificant correlation to the percentage of trisomic cells. Children with a lower percentage of trisomic cells showed a relatively high intelligence level.