Brief clinical report: Curry-Hall syndrome.

Curry and Hall [1979] described a large Spanish-Mexican family with a pleiotropic autosomal dominant disorder of polydactyly, conical teeth, nail dysplasia, and short limbs. We describe a patient with similar manifestations, but from a different geographic and ethnic background. We propose that the disorder be called the Curry-Hall syndrome.

Variability of expression of the orofaciodigital syndrome type I in black females: six cases.

Orofaciodigital syndrome type I (OFD I) includes striking orodental, facial, digital, renal, and central nervous system (CNS) abnormalities. Frequently associated with mental retardation, OFD I is inherited as an X-linked dominant trait, lethal in males. Here, we report the variable expressivity of OFD I in 6 black U.S. females and review findings in 2 previously reported black patients. Only these 8 of over 160 reported cases involve blacks. Abnormalities observed in black patients are similar to those observed in whites, but with specific differences. Only 25% of the blacks had cleft palate and none was observed with midline cleft of the upper lip. Among whites, 80% have cleft palate and 45% midline cleft of the upper lip. These findings suggest that racial genetic factors may protect lip and palate development in blacks, even in the presence of the OFD I gene. CNS abnormalities, including agenesis of the corpus callosum, hydrocephaly, cystic brain lesions, seizures, and mental retardation, were present in 50% of our the cases. This figure is greater than previously reported. Polycystic kidneys were present in 3 of our patients. Including a previously reported patient, 50% of the black OFD I patients show polycystic kidneys. Hyperplastic and supernumerary frenula, with or without brachydactyly, have been shown to be strong diagnostic criteria in our patients. New findings reported here include intracranial berry aneurysm, periodontal disease, and lip pits. Clinicians treating these patients should be aware of the pleiotropic manifestations of the syndrome, which may include renal and CNS anomalies. Ultrasonic and computed tomography scan studies are indicated in patients diagnosed with OFD I.

A new Seckel-like syndrome of primordial dwarfism.

Seckel syndrome is a rare, recessively inherited disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. Even though there are well-established minimum diagnostic criteria for this syndrome, controversy exists about its boundaries and criteria for exclusion. We studied 2 remarkably similar, unrelated children with most of the clinical and radiographic manifestations of Seckel's original patient. Although their craniofacial and orodental anomalies are typical of Seckel syndrome, 1 child has unusual appearance of the hands and feet that have not been previously associated with it. This patient appears to define a new Seckel-like syndrome and suggests heterogeneity in this type of primordial dwarfism.

Paraplegia due to ossification of ligamenta flava in X-linked hypophosphatemia. A case report.

STUDY DESIGN: Spinal canal decompression at the most prominent of multiple posterior calcified thoracic lesions in a case of X-linked hypophosphatemia was undertaken for treatment and diagnosis purposes, as well as to assess possible nature of the pathophysiology underlying the presenting deficits. OBJECTIVES: To discuss the clinical assessment diagnostic and treatment aspects of this rare coincidence of ossification of ligamenta flava in the patient with the skeletal deformities of X-linked hypophosphatemia. SUMMARY OF BACKGROUND DATA: The patient with the stigmata and chemical findings of an X-linked hypophosphatemia presented with paraplegia and multiple calcified posterior spinal thoracic lesions. This was studied with magnetic resonance imaging and electrophysiologic studies of the spinal sensory pathways of the legs. These data constituted the preoperative information required to assess later results of surgical intervention. METHODS: Presurgical clinical, imaging and electrophysiologic studies and laboratory and pathologic investigations of the surgical specimens. RESULTS: Resolution of the paraplegia with walking and return to work in a physically demanding job for the last 4 or 5 years of postoperative follow-up after surgical decompression of the spinal cord only at the worst and highest of the effected spinal levels. CONCLUSION: The coincidence of X-linked hypophosphatemia and ossification of ligamenta flava has been reported only in two or three cases in the literature. Removal of the offending ossifying lesion is known to result in resolution of the clinical deficits but similar lesions at other spinal levels are suspected of producing recurrences. The return of function and of the corresponding electrophysiologic correlates indicate a neurono-apractic nature of the neurologic symptoms.

Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi).

We have reported on six personally examined patients with Rapp Hodgkin syndrome and four additional family members with documentation suggesting strongly that they also were affected with the disorder. Clinical manifestations observed in our patients include cleft lip/palate/uvula, ectodermal dysplasia, and hypospadias in males. The ectodermal dysplasia manifests through uncombable, sparse, wiry hair; alopecia in adulthood; hypodontia; hypohidrosis; and dysplastic nails. In addition, ptosis, atretric ear canals, and dysplastic eustachian orifices are suggested as other manifestations of the disorder.

The prevalence of taurodontism in a select population.

The frequency of taurodontism was studied in 1074 black children from an inner city population. Based on the index that was developed, 4.37% of the sample were determined to be affected. The frequency of taurodontism was compared to other studies. Furthermore, tooth specific frequencies were calculated and the model for determining taurodontism was evaluated.

Oral findings in the Morquio syndrome (mucopolysaccharidosis IV).

The Morquio syndrome is characterized by a specific pattern of platyspondylia, corneal opacities, keratosulfate excretion in the urine, and dental abnormalities. Oral examinations were performed on twelve patients with the condition. The maxillary anterior teeth were widely spaced and flared. The posterior teeth were tapered and had pointed cusp tips. The enamel was of normal hardness, and in some patients the surface was pitted. In roentgenograms, the enamel was less than one fourth its normal thickness but was of normal radiodensity. The prevalence of caries may have been reduced. The hard palates were broad and flat. The dental abnormalities in the Morquio syndrome are of a type that is unique among the group of genetic mucopolysaccharidoses. Our findings therefore support the conjecture that the biochemical defect in this condition is different from that which occurs in the other mucopolysaccharidoses.

A population study on the density of palmar sweat pores.

A study of density of sweat pores in 594 individuals indicated that the average number of pores per cm2 in the hypothenar area was 490.4 for white newborns, 513.6 for black newborns, 652.4 for white children, 629.2 for black children, 519.6 for white adult males, 533.6 for white adult females, 379.2 for black adult males, and 519.2 for black adult females. The present study failed to demonstrate that newborns have the greatest density of pores when compared with children and adults. However, it should be kept in mind that many of the palmar impressions were taken during the first or second day of life. Those impressions did not reproduce the sweat pores clearly. It appears from this study that an optimal time to take palmar impressions on newborns is after the sweat glands are mature and functioning. Figure 1 shows that this occurs 2 weeks after birth. No differences in the density of sweat pores was found between blacks and whites. No differences in the density of sweat pores between the sexes was found in any group except for adult blacks: males had fewer pores than females. A review of the density of sweat pores in subjects with hypohidrotic ectodermal dysplasia is also given.

Active and suppressor T cells: diminution in a patient with dyskeratosis congenita and in first-degree relatives.

Active, total and nonspecific suppressor T cells were studied in a 15-year-old black male with dyskeratosis congenita syndrome, a precancerous mucosal disease, and in 7 siblings and several other relatives in three generations. The propositus and 1 elder sister, products of a second-cousin marriage, died with dyskeratosis congenita. The mother had dermatomyositis, and the maternal grandmother and her sister reportedly had rheumatoid arthritis. Studies of available siblings, father, and grandparents revealed a high incidence of deficiency in number of active and/or suppressor T cells, sometimes severe enough to result in a decrease in total T cells. The patient had many stigmata of precocious aging, as did the sibling who died with the same syndrome. The laboratory data suggest that a defect in cell-mediated immunity, involving mainly or exclusively suppressor T cells, is associated with, and is presumably the cause of, precocious aging; perhaps an abiotrophy in this cell subpopulation results in physiologic aging.

Periodontosis in sibs.

Periodontosis is an idiopathic degeneration of the periodontium which results in migration and loss of teeth. The disease begins in the regions of the incisors and first molars. Late in the disease, other areas of the dental arches may be involved. The gingivae are not initially inflamed, and there are no associated systemic abnormalities. Local irritants cannot account for the marked alveolar destruction which leads to the tooth loss. Several heritable syndromes and periodontitis also may be associated with alveolar bone destruction. Periodontosis can be differentiated each of these on the basis of negative laboratory tests, lack of associated anomalies, distinctive pattern of bone loss and timing of onset of gingival inflammation. A family in which periodontosis was present in three of six sibs and in which ichthyosis was segregating independently of periodontosis is reported.

Familial occurrence of gastroschisis. Four new cases and review of the literature.

In two unrelated families, there was familial occurrence of gastroschisis. In one family, a boy and girl were affected and there was a family history of stillbirth, abortion, prematurity, and esophageal obstruction. In the second family, two boys were affected and there was a family history of spontaneous abortion, inguinal hernia, and umbilical hernia. The recurrence of gastroschisis, generally considered a sporadic congenital effect, suggests that the condition may be genetic in nature. Furthermore, the pedigree of one of the families suggests that gastroschisis may be a severe expression of umbilical hernia or other abdominal wall defects. Autosomal dominant inheritance with variable expressivity or multifactorial inheritance may explain the occurrence of gastroschisis in the two families. Thus, a family history of abdominal wall defects may increase the risk for gastroschisis.

Misconceptions about dental treatment for patients with genetic disease.

It is the goal of this conference to define the role of dentistry to the interdisciplinary treatment of genetic diseases. Certainly, with the inclusion of dental disciplines in centers devoted to the diagnosis and treatment of genetic disease, the diagnosis and treatment of secondary craniofacial manifestation and the diagnosis and treatment of genetic disease primary to the craniofacial and oral complex will be greatly accelerated and the many misconceptions about dental treatment for patients with any genetic disease will be significantly reduced.

Infantile systemic hyalinosis in a black infant.

A black girl was born with flexion contractures and experienced pain on movement by 1 week of age. She subsequently developed perioral papules, gingival hyperplasia, perianal nodules, torticollis, diarrhea, rectal prolapse, and inability to open her mouth. Her skin became increasingly sclerodermatous, and velvety, hyperpigmented plaques arose over bony prominences. A skin biopsy specimen showed hyaline material in the papillary dermis with lack of elastic fibers. Ultrastructural examination revealed fibrillogranular material around fibroblasts and blood vessels. This child had the clinical, histologic, and ultrastructural features of infantile systemic hyalinosis. This disorder has not been described in a black infant. Previous case reports of infantile systemic hyalinosis are reviewed and unusual features of our case are discussed.

XY gonadal dysgenesis in three siblings.

Three tall, phenotypic female siblings with XY gonadal dysgenesis were found to have short fourth metacarpal bones (bilateral in two and unilateral in the other). Clitoromegaly was observed in the two older siblings, without hirsutism. Bilateral streak gonads were found in all three. A gonadoblastoma was present in the left streak gonad of the youngest, and an adenomatoid tumor in the left streak gonad of the oldest, who was diabetic. Determination of androgens from peripheral and gonadal venous plasma revealed androgen secretion by the streak gonads. On the basis of clinical findings, familial tendency, and androgen secretion from the streak gonads in these patients, it is proposed that the XY gonadal dysgenesis represents a severe form of male pseudohermaphroditism.