Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

Aplasia cutis congenita (ACC) is a heterogeneous group of disorders characterized by localized or widespread absence of skin. ACC can occur isolated or as part of a syndrome. Here we report two consanguineous families, each with two affected offspring. Affected individuals showed widespread ACC while the skin in between had a normal appearance. Ears and nose of the four patients were underdeveloped, otherwise there were no unusual physical characteristics and no internal organ anomalies. "Whole" exome sequencing (WES) of the mother of Family 1 yielded a pathogenic heterozygote variant in ITGB4. The father and healthy offspring were heterozygous for the same variant. WES of the mother of Family 2 yielded a variant in PLEC1. The father and grandmother, who had a history of two offspring with fatal ACC, were heterozygous for the same variant. PLEC1 and ITGB4 have both been previously been reported in association with ACC. We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC.

Science of breeding and heredity from ancient Persia to modern Iran.

About 1700 years BC, the prophet Zoroaster declared equal right for women and men to choose their "own ways." There is much evidence that ancient Persians believed in the equal contribution of women and men toward producing a child, and all its hereditary characteristics.Even more surprising are the phrases in Vandidad book, which were gathered by Mobedans in the Mad dynasty about egg extraction (gametes) from animal reproductive organs (gonads) and their storage for future conception.Centuries later, Western philosopher beliefs in regard to reproduction were contrary to Persian knowledge. The Greek philosophers believed that man's water (semen) contains all human characteristics, and the female uterus is only responsible for nurturing and development of fetus. After detection of the ovum (de Graaf 2(nd) half 17 century) Malpigy proposed the preformation theory (ovist) which means there is a miniature human inside ovum, that grows after Semen has entered the uterus and grow into a well-developed fetus. This hypothesis was later delegated to spermatozoa. These contradictory and inappropriate beliefs were subject to discussions and dispute, until C.E. Wolf demonstrated that the embryo is a product of the fertilization of ovum by spermatozoa.800 years prior this the sage Ferdowsi "The Great Iranian Poet" explains nicely the equal participation of man and woman in the production of the fetus and transmission of characters.After the renaissance and especially in recent years, tremendous achievements have been made in unraveling biological secrets of reproduction. There was no work o n genetics in Iran until 1936, when a genetic course was added to the biology curriculum in related colleges and universities; Iranian Genetics Society was founded in 1966, initiating a steady movement in this field.Although there was an inevitable gap during the revolution and war in our country, now there is great effort by researchers to eliminate the gap and bring us into the mainstream of world science, and development in biomedical sciences in the third millennium.

Lung hypoplasia and its associated major congenital abnormalities in perinatal death: an autopsy study of 850 cases.

OBJECTIVE: To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. METHODS: 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. RESULTS: LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. CONCLUSION: More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.