R. M. Goodman

A syndrom characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria

A syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria is described in three siblings in a family of a consanguineous marriage. Renal glycosuria and uricosuria were noted in some affected and unaffected members. It is postulated that these two renal tubular reabsorption defects are independent of the ichthyosis syndrome and are transmitted as a dominant defect, whereas the syndrome is inherited as an autosomal recessive disorder.

A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges

A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.

Iris (Lisch) nodules in neurofibromatosis

A group of 30 patients ranging from 4 to 56 years of age with the peripheral form of neurofibromatosis were evaluated for the presence of iris (Lisch) nodules. These nodules were observed in 73% of our cases and their presence was directly related to the severity of the skin manifestations of the disease. It is concluded that Lisch nodules are pathognomonic for neurofibromatosis and thus, their presence should be looked for in all suspected cases.

Megalocornea, macrocephaly, mental and motor retardation (MMMM)

Two patients with macrocephaly, mild mental retardation and megalocornea are reported. Hypotonia, poor coordination and swallowing difficulties were present. One patient was obese and the other had scoliosis. Both had large fleshy ears and long fingers. The spectrum of the mental retardation megalocornea syndrome is not fully defined. These two patients resemble a previously reported case, and although there are distinct differences from patients with familial or sporadic Neuhauser syndrome, these cases may represent clinical variability of that syndrome.

Spongy degeneration of the brain in Israel: A retrospective study

Spongy degeneration of the brain is a rare autosomal recessive disorder found predominantly in Ashkenazi Jews. In a recent review, 48 families were found to be affected with this disease. This report deals with a survey of this condition in Israel between the years 1965–1980. Eleven families with 17 affected children were ascertained. All records on these patients were reviewed and each family was visited. All the families were Jewish, comprising 7 Ashkenazi, 1 Sephardi, 2 Oriental and 1 mixed Ashkenazi‐Oriental family. Parental consanguinity was noted only in the Sephardi and Oriental families, suggesting the rareness of the gene in these populations, versus its relatively more frequent occurrence among Ashkenazi Jews. Various clinical and histopathological findings observed in our study are compared to those reported in the literature.

Brachydactyly type A-7 (Smorgasbord): a new entity

We report a family with a form of brachydactyly that involves characteristic features of types A2 and D brachydactyly plus features found in other types of brachydactyly and also features not previously noted. This set of findings represents a new syndrome, which we have termed brachydactyly type A7 (Smorgasbord).

A new white forelock (poliosis) syndrome with multiple congenital malformations in two sibs

Two Jewish Ashkenazi male sibs are reported as having a new syndrome consisting of a white forelock, distinct facial features associated with congenital malformations involving the eye, cardio‐pulmonary and skeletal systems. It is postulated that the etiology of this disorder is genetic and transmitted either as an autosomal recessive or X‐linked recessive condition.

A new autosomal dominant craniofacial deafness syndrome

A Jewish family is reported in which the proband and her father had congenital hearing loss and unusual facies consisting of facial asymmetry, temporal alopecia with frontal bossing, a broad nasal root and small nasal alae. In addition, both were born with a short frenulum of the tongue. We believe these findings represent a new autosomal dominant deafness syndrome with distinct craniofacial features.