Biomedical subjects
Publications and source records attributed to R M Goodman.
A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.
An 18 year old single Jewish woman with the Waardenburg syndrome and absence of a vagina and right sided adnexa uteri is reported. Other congenital malformations associated with the Waardenburg syndrome are mentioned and it is postulated that they may be the result of an altered invasion of neurones or altered neurones in certain organ systems early in embryogenesis.
The Pena Shokeir type I syndrome is considered to be a lethal disorder in most cases. Infrequently, some of the affected children may reach the age of 1 year and beyond. When there is a history of another affected sib, the entity can be suspected prenatally. It is an uncommon autosomal recessive disorder. Out of 33 reported infants reviewed by us, six survived the neonatal period; among a further 27 cases, reported more recently, none survived the neonatal period. The clinical findings at birth are multiple and involve mainly the musculoskeletal and respiratory systems, accompanied by characteristic facial changes. The possibility of a primary hereditary malformation affecting the motor neuron cells of the spinal cord is postulated with the subsequent changes representing a fetal akinesia deformation sequence.
This report describes a child with the Klippel-Feil anomaly and sacral agenesis. A review of the literature revealed that this association has been recorded on other occasions. We believe that this combination of findings is significant and thus propose to call this the Klippel-Feil anomaly type IV.
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A family presenting with ichthyosis vulgaris, prominent full cheeks, sparse lateral eyebrows and other craniofacial and musculoskeletal defects is described in detail. This constellation of physical findings represents a new syndrome, transmitted in an autosomal dominant fashion. For reasons of simplicity it has been termed the I (ichthyosis), C (cheek), E (eyebrow) syndrome.
A 14-year-old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiology.
Ehlers-Danlos syndrome (EDS) is clinically and genetically a heterogeneous disorder of connective tissue. Eleven different types of EDS have been documented, several of which have major cardiovascular complications as part of their clinical manifestations. The purpose of this report is to call attention to a form of EDS with minimal external features but severe internal vascular complications.
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.
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Progressive ossifying fibrodysplasia is a rare genetic disorder of connective tissue. A 6-year-old boy sustained a fracture of the humerus and afterwards of the femur. The former fracture was treated closed and the latter with internal fixation. Both fractures healed with severe restriction of joint motion.
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Moderate to severe alopecia in children may be due to a genetic disorder. This paper reviews the heritable causes of alopecia in children and gives a detailed account of two affected unrelated children. One has alopecia universalis while the other has alopecia postulated to be due to a new disorder of genetic etiology. The article concludes that for purposes of genetic counseling and prognosis it is crucial that a correct diagnosis be made.
We report on an infant with multiple congenital anomalies, involving mainly the face, thorax, and genitalia. Because such features have not been reported before, we postulate that this may be a newly recognized syndrome, transmitted as an autosomal recessive.
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.
An Arab family is reported in which the proband and two affected sibs had bilateral rhizomelia of the humerus and other skeletal, craniofacial and cardiac abnormalities. Since all three affected sibs died during early childhood, this may be a lethal condition. We believe this constellation of findings which has not been previously described represents a new syndrome, most probably transmitted as an autosomal recessive disorder.
We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one.