Distichiasis and cleft palate

A patient with the unusual coexistence of distichiasis and cleft palate is described. Distichiasis is a rare congenital eyelid anomaly in which accessory eyelashes are present in the meibomian gland orifices. Its association with other systemic abnormalities is reviewed; the distinctions among distichiasis, trichiasis, entropion, and epiblepharon are outlined; and methods of treatment for distichiasis are described.     

The Tetraphocomelia-cleft palate syndrome

Summary A new case of Tetraphocomelia—cleft palate syndrome is described. The similiarity between this patient and the cases classified as Pseudothalidomide or as Robert syndrome makes a distinction between these 2 syndromes doubtful.

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Zusammenfassung Ein Fall von Tetraphokomelie und Oberkieferspalte wird beschrieben. Die Ähnlichkeit dieses Patienten mit Fällen, die als Pseudothalidomid-oder Robert-Syndrom eingeordnet werden, läßt die Frage aufkommen, ob eine Unterscheidung dieser beiden Syndrome sinnvoll ist.

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The application of the term phocomelia for the malformation of the here described case is certainly not exact in the strict sense of the word. But we feel justified to do so because of the general use of the term in the literature, because of McKusick's suggestion to call the Pseudothalidomide or SC-syndrome the SC-Phocomelia-syndrome (Birth defects Original Article Series, Part III, Vol. 5, p. 89) and because of the definition of phocomelia as total or partial absence of any proximal region of the limbs by Feire-Maia (ibid. p. 8/9).     

D-penicillamine-induced cleft palate in mice

The teratogenic potential of the lathyrogen, D-penicillamine (DP), was assessed in pregnant mice, especially with respect to its ability to produce cleft palate. The dosage and the duration of treatment as they relate to the induction of cleft palate were also studied. Two different doses of DP were administered orally for either 5 or 4 consecutive days during the critical period of palatal closure. D-penicillamine (DP) at a dose level which does not have any apparent maternal toxic effects produced cleft palate in the offspring, and this teratogenic effect depended more upon the duration of treatment than the dosage administered. Inhibitory effects on the formation of bone matrix were observed at the base of the palatal shelf. It is suggested that DP is potentially an osteolathyrogenic agent. The mechanism of induction of cleft palate in DP-treated mice was explored by histological studies using light microscopy. Delayed elevation of the palatal shelves was observed and is considered to be the cause of the induction of cleft palate. No other external malformations could be detected in DP-treated fetuses.     

Sex-linked inheritance of cleft palate

Summary A family pedigree is reported in which males in four generations are affected with midline isolated cleft palate. This is the second report of cleft palate inherited as a sex-linked recessive trait, and it emphasizes the importance of careful pedigree construction when counseling families of children afflicted with this disorder.