Oto-palato-digital syndrome in an Iranian infant.

A male infant is presented with wide fontanels, micrognathia, mid-face hypoplasia, hypertelorism, broad nasal root, down-slanting palpebral fissures, small thorax, funnel chest, short wide toes, camptodactyly and cutaneous syndactyly of fingers and toes, dysplastic bones with thin wavy ribs and bowed femore, cryptorchidism, and hypospadias grade I. The mother of this infant showed some signs of the same condition, including hypertelorism, micrognathia, small nose with depressed bridge, flat mid-face, impacted teeth and small chest. This case shows many similarities to oto-palatal-digital syndrome types I and II.

Congenital hereditary lymphedema (Nonne/Milroy).

A 36-year-old man, with his children, a three-year-old girl, and a five month-old boy, suffering from congenital hereditary lymphedema, were the subjects of the present study. The man and his wife, were distant relatives. All the other family members of the two sides were apparently healthy.

Congenital malformations and genetic diseases in Iranian infants.

Data of 13,037 live-born infants from a hospital in Tehran, Iran were analysed for congenital malformations and genetic diseases. The results showed that the rates of joint dislocation, cleft lip, cleft palate and finger anomalies are similar to those of the other populations. The rates of chromosomal, thorax and abdominal, external genital anomalies and other syndromes were higher compared with other populations, whereas the rates of multiple births and limb anomalies were lower.

[Waardenburg's syndrome. Four cases in an Iranian family (author's transl)]. / Waardenburg-Syndrom. Bericht über 4 Fälle in einer iranischen Famillie.

4 cases of Waardenburg's syndrome in an Iranian family are presented and discussed. The patients, a 34-year-old father with his 6-month-old and 3-year-old sons and 2-year-old daughter, show symptoms of this syndrome in varying degrees of expression except for deafness.