Hallermann-Streiff Syndrome Research Articles

Hallermann-Streiff Syndrome Associated with Sclerocornea, Aniridia, and a Chromosomal Abnormality

An infant with the features of Hallermann-Streiff syndrome also had the previously unreported ocular signs of sclerocornea, buphthalmos, congenital glaucoma, and aniridia. Chromosome analysis revealed an elongation of one of the arms of the tenth chromosome. The infant was the product of a consanguinous marriage between distant cousins and a distant cousin of the patient also had the typical features of the Hallermann-Streiff syndrome.

The birth prevalence of malformation syndromes in Tokyo infants: a survey of 14,430 newborn infants.

A survey of the birth prevalence of congenital anomalies among newborn infants in Japan is under way at a large maternity hospital in Tokyo. Of 14,430 consecutive newborn babies (7,455 M; 6,975 F), 33 had a multiple congenital anomalies (MCA) syndrome. These included 2 with trisomy 13 (including a mosaic), 3 with trisomy 18 (including 1 mosaic), 16 with trisomy 21 (including 1 mosaic), 1 with cri-du-chat syndrome, 1 with 5p partial trisomy, 1 with Hallermann-Streiff syndrome, 1 with Treacher-Collins syndrome, 1 with achodroplasia, 2 with arthrogryposis multiplex congenita, 1 with hemihypertrophy, 1 with Wiedemann-Beckwith syndrome, 1 with asplenia syndrome, 1 with Klippel-Trenaunay-Weber syndrome, and 1 with probable Marfan's syndrome. Except for one infant with Ullrich-Turner syndrome, cases with sex-chromosome aberrations could not be diagnosed neonatally on a clinical basis.

The Hallermann-Streiff Syndrome

There are many syndromes associated with mental retardation and some are more true to type than others. Among the latter are. of course, Down's syndrome and the mucopolysaccharidoses. One rare but distinct syndrome is the Hallermann-Streiff syndrome (though it is not always associated with retardation). There are some 60 reported cases in “developed” countries and this journal recently reported a case in India

Buphthalmos in Neurofibromatosis: Is it an Expression of Regional Giantism?

A case of buphthalmos and regional giantism in neurofibromatosis with the characteristics of the Francois syndrome is reported. Difficulties of early diagnosis are emphasized. A discussion of the mechanisms which may produce buphthalmos in neurofibromatosis is presented. We propose that buphthalmos in neurofibromatosis may be primarily an expression of regional giantism rather than a consequence of uncontrolled intraocular pressure.

Hallermann-Streiff Syndrome

A patient with the Hallermann-Streiff syndrome showed significant findings, including demonstration of decreased thoracic compliance and a marked response of growth hormone to arginine stimulation. No metabolic or chromosomal defect could be demonstrated in this patient.

NATAL AND NEONATAL TEETH

The occurrence of natal and/or neonatal teeth is a rare anomaly, which for centuries has been associated with diverse superstitions among many different ethnic groups. The incidence of natal and/or neonatal teeth is far more frequent than previously supposed. Review of 359 recorded cases suggests an incidence of at least 1 in 3,000 births. Natal teeth are more frequent than neonatal teeth, the ratio being approximately 3 to 1. Rarely, a child will exhibit both natal and neonatal teeth. There appears to be no sex preference. Most frequently (ca. 85% of the cases), the natal or neonatal teeth are the deciduous mandibular incisors. In almost 90% of the cases, the teeth are of the normal deciduous complement. The rest are supernumerary. In about 60% of the cases, both of the natal and/or neonatal mandibular incisors erupt prematurely. Occasionally, a child may be born with a considerable number of his deciduous teeth erupted. Several such cases have been cited. About 70% of the natal and/or neonatal teeth are firmly fixed but a small number subsequently become loose. Similarly, a small fraction of those initially loose become fixed. Though the etiology is not known, approximately 15% had parents, siblings, or other near relatives with a history of natal and/or neonatal teeth. In several well-documented cases, the inheritance pattern has been that of an autosomal dominant trait. Three syndromes have been associated with natal teeth: (a) chondroectodermal dysplasia or Ellis-van Creveld syndrome, (b) oculo-mandibulo-dyscephaly with hypotrichosis or Hallermann-Streiff syndrome, and (c) pachyonychia congenita or Jadassohn-Lewandowski syndrome. Natal teeth may also be associated with cleft lip, cleft palate and cyclopia. Histologic investigation has revealed a failure of root formation despite eruption, a large vascular pulp, irregular genesis of dentin and a failure of cementum formation.