Agent Orange and birth defects.
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Biomedical subjects
Publications and source records attributed to H M Pashayan.
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Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and feet, born to the same phenotypically normal mother, are reported. The younger of the two sibs also has dominantly inherited tremors (also referred to as essential heredofamilial tremors) as did her biological father. Possible genetic causes to explain the recurrence of the facial and limb malformations in the half sibs with additional central nervous system malformations in the younger sib are discussed.
The entire infant population of the Tufts-New England Medical Center Cleft Palate Clinic was reviewed, and the prevalence rates of congenital cardiac anomalies were calculated. The overall prevalence rate of congenital heart disease among the facial cleft clinic population was 6.7%, with a prevalence rate of 9.1% among patients with submucous cleft palate, 7.7% with congenital palato-pharyngeal incompetence, 0% with cleft lip only, 5.3% with unilateral cleft lip and palate, 12.5% with bilateral cleft lip and palate, 4.3% with cleft palate only, 13.6% with Pierre-Robin anomaly, 7.1% with cleft lip and palate and a syndrome diagnosis, 16.7% with cleft palate and a syndrome diagnosis.
Congenital micrognathia and secondary glossoptosis, with or without cleft palate, constitute the Robin anomaly. Neonates with this condition are usually at great risk for life-threatening respiratory and feeding problems. The approach to the management of infants with this condition has included, in order of increasing complexity, positioning of the patient, surgical tongue-lip adhesion and tracheostomy. Because of dissatisfaction with the effectiveness of surgical tongue-lip adhesion, and a desire to avoid performing a tracheostomy, a trial of intense non-surgical management was instituted. Ten consecutive patients admitted to the Boston Floating Hospital with Robin anomaly were treated successfully by positioning, without requiring tongue-lip adhesion or tracheostomy. Medical management procedures are outlined and discussed.
A patient with hypotelorism, nasomaxillary hypoplasia and cleft lip and palate is presented. The absence of an associated intracranial abnormality, mental retardation or seizures places this patient in a separate category from those described by deMyer. Her intelligence is above normal but at four years of age, she is having psychological problems and difficulties interacting with her peers.
A family with the Popliteal Pterygium Syndrome is presented. The father was born with a cleft of the palate and lower lip pits. Two of the three offspring showed extensive involvement of the palate, gums, and lips with minimal involvement of the lower limbs, genitalia, and nails.
Twenty patients undergoing pharyngeal flap surgery to correct velopharyngeal incompetence were studied by speech videofluoroscopy pre- and postoperatively to determine the effects of the surgical procedure on lateral pharyngeal wall motion. Within the limits of clinical judgment and for purposes of surgical planning, the motion was not altered. The implications of this are discussed.
Most infants born with a cleft palate with or without cleft lip are undergrown and have histories of difficult feeding. For the past two years, all of the infants born with isolated cleft palate with or without cleft lip, referred to the Boston Floating Cleft Palate Clinic, were fed using a simplified method. A standard nipple that was cross cut and a standard glass baby bottle were used. The infants were fed in the sitting position and burped frequently. Data indicating that nutrition in these infants is adequate as judged by weight gain was provided.
A patient is reported who had a partial terminal deletion of the long arm of chromosome No. 6. His clinical findings included development delay, failure to thrive, neurologic abnormalities, and multiple congenital malformations. Among the malformation were unusual facial features, cleft palate, atrial septal defect, and abnormalities of the external genitalia. The patient's features are compared with others who may have material deleted from the long arm of chromosome No. 6.
Three infant boys with bilateral absence of the kidneys and hypoplasia of the lungs are described. Two of the infants were brothers and the third was a first cousin. They were born to 2 sisters whose husbancs were unrelated to their wives and to each other. None of the parents had renal problems. The occurrence of this syndrome in 2 male sibs is suggestive of an autosomal recessive inheritance pattern which has been previously described. An additional male first cousin born to the mother's sister is sugesstive of sex-linked inheritance for this particular family, an inheritance pattern not previously described.
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In this presentation the scope of the problem of teratogenesis and the essentials of teratology are briefly reviewed. The teratogenicity of any compound is a reflection of a complex interaction of the compound with both the maternal and fetal tissues, the genetic background of the fetus, and the time sequence of gestational events. Under such circumstances the implication of a single compound as a teratogen is difficult, a fact reflected in the high percentage of congenital morphologic abnormalities for which no cause can be ascribed. Four compounds--thalidomide, anticonvulsants, alcohol, and folic acid antagonists--with a known teratogenetic effect on the musculoskeletal system are discussed, as is the role of the orthopedic surgeon in teratology.
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A new syndrome is described. Its distinguishing features are hallux syndactyly, ulnar polydactyly and abnormal earlobes with other roentgenographic abnormalities along the medial border of the foot. It is inherited as an autosomal dominant.
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