James C. Pettersen

Terminological, diagnostic, nosological, and anatomical-developmental aspects of developmental defects in man.

Man’s experience of congenital malformations antedates recorded history and can be inferred from philology and the most ancient of legends. Indeed, the presence of Down syndrome in the chimpanzee (McClure et al., 1969, 1970) and of various X-linked disorders in other mammals (Ohno, 1967) means that even during phylogeny man lived side by side with mammalian cousins affected with homologous forms of his own genetic aberrations. The history of teratology has been written many times and is astoundingly voluminous (Gruber, 1964). It shows that the accomplishments of the early workers in the field consisted primarily of anatomical and clinical descriptions.

Studies of malformation syndromes of man XXXXIA: anatomical studies in the Hanhart syndrome —A pathogenetic hypothesis

Two infants with the Hanhart syndrome, i.e. micrognathia, microglossia, terminal deficiency of all limbs and imperforate anus in one, were dissected and studied in detail. The interrelationships of the muscular and skeletal defects suggested that they were the result of incomplete rather than abnormal morphogenesis. We speculate that the oral and limb abnormalities resulted from deficient mesodermal proliferation caused by disturbances in the ectodermal-mesodermal interactions beginning about the 4th week of development. The imperforate anus may also relate to the proposed defect.

APPARENT CUTIS LAXA, MICROCEPHALY, CHD, POLYCYSTIC KIDNEYS, HYPOGENITALISM - A “NEW” SYNDROME

A complete dissection was done on a 7 day, 46 XY infant with mild IUGR and a syndrome of microcephaly, fleeting forehead, high bridge of nose, mongoloid slanting of palpebral fissures, micrognathia, congenital heart disease, hypoplastic external genitalia with penile hypospadias, foot deformities and remarkable redundancy of skin, especially over “nape of neck” and extremities.Anatomical and histological studies showed an apparent absence of elastic fibers in skin, heart defects (absence of superior vena cava, left superior vena cava entering an enlarged coronary sinus, large ASD, triple coronary arteries, PDA, bicuspid pulmonic valve), hypoplastic inguinal testes, and bilateral Potter Type II dysplastic, polycystic kidneys. These findings are interpreted as a (genetic?) multiple congenital anomaly syndrome with apparent mosaic pleiotropy rather than as a connective tissue dysplasia with relational pleiotropy. Skin findings may reflect fetal lymphedema; in a similar patient (Kaye, et. al., 1974 Am. J. Pis. Child. 127:115) pitting edema of feet was seen. This condition may represent a new syndrome.