Polytopic anomalies with agenesis of the lower vertebral column.

We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malformation complex. We show that all of these findings are defects of blastogenesis, originate in the primary developmental field and/or the progenitor fields, thus representing polytopic field defects. This concept appears applicable in our cases and makes such terms such as "caudal regression syndrome" or "axial mesodermal dysplasia spectrum" redundant.

Salivary gland disorders and heredity.

From personal observations, I review the genetic disorders of salivary gland development and function, including the lacrimo-auriculodentodigital (LADD) syndrome, autosomal dominant hypoplasia/agenesis of salivary and/or lacrimal glands, chronic recurrent sialadenitis, polycystic-dysgenetic disease of the parotids and salivary calculi.

Unusual complex of ventral midline anomalies: a multiple congenital anomalies/mental retardation syndrome.

We report on an infant boy with facial anomalies, hypoplasia of corpus callosum, cerebral atrophy, cleft of lower sternum, absence of palpable medial abdominal muscles omphalocele, hypospadias, and other anomalies. This combination of congenital anomalies seems not to have been described before. A clear distinction from other syndromes and associations with midline defects seems possible, and thus a specific entity may be postulated.

Blepharo-cheilo-dontic (BCD) syndrome.

Patients with the autosomal dominant ble-pharo-cheilo-dontic (BCD) syndrome have ectropion of lower eyelids, distichiasis of upper eyelids, euryblepharon, bilaterally cleft lip/palate, oligodontia, and conical crown form. Initially known under the eponym "Elschnig syndrome" (1912), BCD syndrome has been described in binary, ternary, and quaternary combination. There is overlap with the syndrome reported by Martínez et al. [1987], postaxial acrofacial dysostosis (Miller syndrome, Genée-Wiedemann syndrome), and a syndrome reported briefly by Warburg.

Stüve-Wiedemann syndrome: update and historical footnote.

Stüve-Wiedemann syndrome (SWS) is, at last, beginning to emerge from the shadows of campomelic syndrome as a nosologically and, presumably, causally-distinct entity, first delineated in 1971 on the basis of 2 affected sisters. The fact that these sisters had an affected double first cousin supports autosomal-recessive inheritance of SWS.

[Neonatal progeroid syndrome (Wiedemann-Rautenstrauch). A follow-up study]. / Neonatales progeroides Syndrom (Wiedemann-Rautenstrauch). Eine follow-up-Studie.

The diagnostic criteria of the neonatal progeroid syndrome (NPS) are: intrauterine and postnatal growth failure, hydrocephalic appearance, prominent scalp veins, old-looking face, absence of subcutaneous fat and neonatal teeth. Until now altogether nine cases have been reported, which were predominant diagnosed in infant age. The NPS is in general assigned to the autosomal recessive trait. With increasing age the outward appearance stays unchanged. The in 1977 under diagnose progeria presented patient is now 16 years old. With her a considerable atactic movement disturbance developed next to a psychomotoric retardation. The change in metabolism of proteoglycane that was remarkable in infant age is now no longer provable.

Earliest description by Johann Friedrich Meckel, Senior (1750) of what is known today as Lutembacher syndrome (1916).

The letter that the famous anatomist Johann Friedrich Meckel, Sr. sent from Berlin on May 5, 1750 to the great Albrecht von Haller (at that time resident in Göttingen) contains the earliest reference to an unusual observation made by the former. Even today this observation is considered in the clinical literature to be the first description of a coarctation of the aorta. In fact, it is probably the first description of what is known today as Lutembacher syndrome.