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M S Lubinsky

Publications and source records attributed to M S Lubinsky.

28 records · Page 2Linked to original sources
PubMed1987

Midline developmental "weakness" as a consequence of determinative field properties.

The human midline is particularly vulnerable to dysmorphogenesis. This property can be derived theoretically from models of developmental fields that rely on positional information for the control of the process of determination. The topological properties of the midline as an early plane of symmetry imply positional informational weaknesses that should decrease developmental stability in this area for 2 reasons: 1) the unique location on a cusp between 2 mirror image fields is a "null" position for differentiation, and 2) this location between 2 equal positional values eliminates a lateral gradient that aids in regaining information after disruptions. Under this model, midline malformations would be expected to be primarily determinative defects, with an especial proclivity for patterning and tissue abnormalities. Evidence is presented in support of this hypothesis, which makes midline properties consequences of developmental field properties, even though, technically speaking, the midline would not itself be a field.

Congenital Abnormalities↗
PubMed1985

Johanson-Blizzard syndrome with normal intelligence.

We report a brother and sister with apparent Johanson-Blizzard syndrome and normal intelligence. There is a wide range of intellectual abilities of persons with Johanson-Blizzard syndrome. No phenotypic predictors of ultimate intellectual function were found in the literature.

Abnormalities, Multiple↗
PubMed1984

Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome.

We report on an autosomal dominant syndrome consisting of unique corneal epithelial changes, diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, premature birth, and dental problems. This condition has been present in seven persons in three generations of one family. Corneal biopsies demonstrate mild dysplastic changes in the epithelium. Skin biopsies show hyperkeratosis and acanthosis. In both eye and skin specimens, results of stains for polysaccharides, amyloid, and tyrosine were unremarkable. Roentgenograms of the hands show short distal phalanges, short 4th metacarpals, and constriction of the heads of some of the metacarpals. In three of four affected relatives, a variable medullary narrowness is seen. In mode of inheritance, clinical appearance, and/or associated defects. This syndrome appears to differ from previously reported conditions that include palmoplantar hyperkeratosis and/or corneal changes.

Adult↗
PubMed1983

Cataracts and testicular failure in three brothers.

I report on three brothers with a syndrome of adolescent cataracts and infertility. Follicle-stimulating hormone (FSH) levels were elevated, suggesting testicular failure. Their parents were second cousins, suggesting autosomal recessive inheritance. Hypogonadism and cataracts occur in several syndromes, but with other findings. This association is probably more than fortuitous, and a common pathogenesis may be involved.

Adult↗
PubMed1980

Female pseudohermaphroditism and associated anomalies.

A patient was observed with female pseudohermaphroditism (FPH) and the "Prune Belly Syndrome" (PBS) - abdominal muscle hypoplasia and urinary tract abnormalities - findings seen in three previously reported cases. A review of cases of FPH with additional anomalies suggests a spectrum of primary, and possibly derived, malformations with Prune Belly Syndrome at one extreme. These findings can best be understood as disturbance of a specific embryological developmental field of which FPH is a marker, although not an invariable expression. The field includes anorectal, urogenital, sacral-spinal, and ventral wall structures. FPH is a rare manifestation, and the cases reviewed suggest that it can appear as a developmental anomaly without apparent hormonal trigger. Malformations of this field are understandable on the basis of a multifactorial model, with male sex as a predisposing factor. The caudal defects of the cryptophthalmos syndrome offer a paradigm for a spectrum of field anomalies.

Abdominal Muscles↗
PubMed1977

The FG syndrome: further characterization, report of a third family, and of a sporadic case.

We report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X-linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality of facial appearance, imperforate anus and/or orthe gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.

Abnormalities, Multiple↗
PubMedDate not supplied

Kouska's fallacy: the error of the divided denominator.

The significance of two normally independent findings in a single patient is often difficult to assess. One simple measure of the likelihood of random coincidence is the joint probability, based on the assumption that the findings are independent. Unfortunately, this technique is often used wrongly. The error is the division of an event into its components, followed by calculation of their joint probability. These two processes, used together, make the likelihood of a common event happening seem very improbable. This can be termed the error of the divided denominator, or Kouska's fallacy, after a fictional character who used this technique to disprove the existence of life.

Child↗