American Journal of Medical Genetics Part A

doi: 10.1002/ajmg.1320310101pmid: N/A

Greenberg, Frank; Courtney, Kristine B.; Wessels, Robert A.; Huhta, James; Carpenter, Robert J.; Rich, Donna C.; Ledbetter, David H.; Opitz, John M.; Reynolds, James F.

doi: 10.1002/ajmg.1320310102pmid: 3066218

A fetus, subsequently shown to have the deletion 17p13, was detected at 30 weeks' gestation because of multiple anomalies and polyhydramnios on ultrasonography. The fetus died and was born at 34 weeks of gestation. Pathologic examination showed intrauterine growth retardation, double outlet right ventricle (a conotruncal cardiac defect), and thymic hypoplasia suggesting partial DiGeorge anomaly. To our knowledge, DiGeorge anomaly has not been reported previously in conjunction with del(17p) nor in the Miller‐Dieker syndrome. Since this deletion is the largest deletion of distal 17p observed so far, one explanation for this association may be the presence of a gene on proximal 17p for neural crest development.

Pfeiffer, R. A.; Kapferer, L.; Opitz, John M.

doi: 10.1002/ajmg.1320310103pmid: 3223498

We report on a young man with a syndrome of mental retardation, abnormalities of the brain, sensorineural deafness, hypospadias, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, and abnormal dermatoglyphics. This appears to be a previously undescribed MCA/MR syndrome.

Berginer, V. M.; Carmi, R.; Salen, G.; Opitz, John M.; Reynolds, James F.

doi: 10.1002/ajmg.1320310104pmid: 3223491

Cerebrotendinous xanthomatosis (CTX), is one of the few autosomal recessive progressive storage diseases allowing affected individuals to reproduce. We investigated 38 CTX patients and most of their families. The possibility of a high risk situation for the fetus and/or the apparently healthy newborn infant born to CTX mothers and female carriers of the gene is discussed for genetic counseling purposes and in view of available treatment.

Toriello, Helga V.; Carey, John C.; Opitz, John M.; Reynolds, James F.

doi: 10.1002/ajmg.1320310105pmid: 3223497

We describe findings in four children, three of whom are sibs, who appear to have the same, previously undescribed multiple congenital anomaly (MCA) syndrome. The main manifestations include agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormal ears, redundant neck skin, laryngeal anomalies, cardiac defect, short hands, and hypotonia. The presence of this condition in sibs of each sex suggests that autosomal recessive inheritance is the most likely cause.

Viljoen, Denis L.; Winship, Williams S.; Opitz, John M.; Reynolds, James F.

doi: 10.1002/ajmg.1320310106pmid: 3066219

We report on a 17‐yr‐old young woman with an apparently new tricho‐onycho‐hypohidrotic ectodermal dysplasia. The manifestations include primary interdigital webbing, contractures of fingers and toes, conjunctivitis from narrowing of nasolacrimal ducts, and a small cortical opacity in the lens of the left eye. Psychosocial problems due to the cosmetic appearance are severe. Cause is uncertain.

Muneer, Razia S.; Himes, Jeannie; Rennert, Owen M.; Opitz, John M.; Reynolds, James F.

doi: 10.1002/ajmg.1320310107pmid: 3066220

We describe an unusual de novo case of two interstitial deletions (5q22→5q31; 9p13→9q22) and one duplication (9q22→9q34) resulting from a 10–breakpoint, complex chromosome rearrangement of chromosomes 1, 5, 8, and 9 in a profoundly retarded woman.

Ahern‐Rindell, Amelia J.; Prieur, David J.; Murnane, Robert D.; Raghavan, Srinivasa S.; Daniel, Peter F.; McCluer, Robert H.; Walkley, Steven U.; Parish, Steven M.; Opitz, John M.; Reynolds, James F.

doi: 10.1002/ajmg.1320310108

Krush, Anne J.; Schaumann, Blanka A.; Youssoufian, Hagop; Opitz, John M.; Reynolds, James F.

doi: 10.1002/ajmg.1320310109pmid: 3223499

Clinical and dermatoglyphic findings are reported on a 3–yr old girl with multiple congenital anomalies and unusual dermatoglyphics. The anomalies, including contractural arachnodactyly, rhizomelia (a relative shortening of the proximal segment of the limbs), skin dimples, clinodactyly, disharmonic hand bone maturation, absent, hypoplastic and unusually positioned digital and metacarpophalangeal flexion creases, are not indicative of Marfan syndrome, but it is unclear what this syndrome constitutes. Among the child's most striking dermatoglyphic features, the fingertip patterns (mostly large whorls with extralimital triradii) extend proximally to the middle phalanx and are associated with unusually placed triradii. The furrows between the epidermal ridges are narrower on the volar aspects of the middle and distal phalanges than on the proximal phalanges and palms, resulting in a higher ridge density in the former areas. Dermatoglyphic comparisons between the proposita and her parents are provided. These dermatoglyphic aberrations may indicate the presence of a deleterious agent active during the period of the development of the ridge configurations and of the digital flexion creases.

Kalousek, D. K.; Bamforth, S.; Opitz, John M.; Reynolds, James F.

doi: 10.1002/ajmg.1320310110pmid: 3223500

Amnion rupture sequence is considered an uncommon, sporadic condition among liveborn infants. We have examined 1,010 previable fetuses (9–20 weeks developmental age) to determine the incidence and nature of amnion rupture sequence at this stage of development. We found 18 affected fetuses (15 spontaneous and 3 induced abortions.) with the incidence of 1:56. Eleven fetuses had limb constrictions and amputations only; 7 fetuses also had nonlimb involvement, including disruptions of the craniofacial region mimicking encephalocele, unusual facial clefts, and abdominal defects. In 6 pregnancies, constrictions of the umbilical cord by amniotic bands were the cause of fetal intrauterine death.