[Familial kidney agenesis: renal adysplasia as a cause of urogenital abnormalities in 3 generations]. / Familiäre Nierenagenesie: renale Adysplasie als Ursache urogenitaler Fehlbildungen in 3 Generationen.

Ultrasonographic investigations in a family with two members (uncle and niece) with bilateral renal agenesis disclosed various urogenital malformations (pelvic kidney, unilateral renal agenesis, duplication of kidneys and exstrophy of the cloaca). Pedigree and types of malformations found, focused on renal adysplasia, a condition caused by an autosomal dominant gene with incomplete penetrance and a wide range of expression. Carriers of the gene may reveal variable urogenital malformations, including uni- or bilateral renal agenesis of dysplasia, horseshoe kidneys, pelvic kidney and others. Prenatal ultrasonographic diagnosis is essential in pregnancies of potential or established carriers of the gene. In the present family, 2 subsequent pregnancies were subjected to ultrasonographic diagnosis; in one, fetal renal agenesis was detected and confirmed in the subsequently aborted fetus. Fetal ultrasonography with special attention paid to urogenital anomalies is indicated in any pregnancy of an established or potential carrier of the gene for renal adysplasia.

Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome.

The 3p- syndrome (terminal deletion of the short arm of chromosome 3 with breakpoint at 3p25) was found in the G-banded karyotypes from an undergrown and developmentally retarded 13-month-old girl with a distinct pattern of congenital abnormalities. Features present in the patient and characteristic of the 3p- syndrome included low birthweight, brachy-trigonocephaly, a high and narrow forehead with a prominent metopic suture, epicanthic folds, upslanting palpebral fissures, ptosis, depressed nasal bridge, anteverted nares and a small mandible. She lacked postaxial polydactyly of fingers and toes which is present in about half of the so far reported about one dozen 3p- cases, but she showed an anteriorly placed anus. The deletion was overlooked at a first routine cytogenetic examination. At a later clinical evaluation of the patient, the suspicion of the 3p- syndrome was raised and the aberration found at revision of the old karyotypes. The importance of a good information flow between clinicians and cytogeneticists is stressed.

Fryns syndrome in a girl born to consanguineous parents.

An overweight female newborn with multiple congenital anomalies died shortly after birth. The parents were cousins. The following abnormal findings were noted: Broad, square-shaped head with flat nose, misshapen ears, cleft palate, receding chin, short neck with additional skinfolds, disproportionately short limbs, transverse palmar creases, distal digital hypoplasia with hypoplastic finger- and toenails. Autopsy disclosed a number of further malformations including: dysplasia of the hippocampus, atypical lobation of the lungs with cystic-adenomatoid malformation of the left upper lobe, malrotation of the intestine, bilateral cystic renal dysplasia, bilateral atretic ureters plus a right accessory hydroureter, hypoplastic urinary bladder, uterus and vagina duplex and elongated, partly cystic ovaries. The pattern of malformations in this girl is very similar to that of 7 previously reported patients including two sets of siblings and one instance of parental consanguinity. All patients died shortly after birth. For proper genetic counselling and for prenatal ultrasonographic diagnosis in a further pregnancy, it is important to recognize patients with the Fryns syndrome.