scholarly journals A case report of Potter’s syndrome in a newborn

2021 ◽  
pp. 242-245
Author(s):  
I. H. Shidakov ◽  
A. T. Shavtikova ◽  
F. A. Dzhibabova
Keyword(s):  
Chromosomal Abnormalities ◽  
Obstructive Uropathy ◽  
Tension Pneumothorax ◽  
Renal Dysplasia ◽  
Lung Hypoplasia ◽  
Congenital Defects ◽  
Bladder Agenesis ◽  
Skeletal Disorders ◽  
A Chain ◽  
Successive Generations

Introduction. Potter’s sequence is a very rare and severe syndromic complex that includes congenital kidney defects leading to oligohydramnios, lung hypoplasia and structural skeletal disorders. Clinical case presentation: observation of a boy born from the 5th pregnancy to the mother at 37 weeks. Antenatally, the fetus was found to have bilateral renal and urinary bladder agenesis, malformations of the limbs, but the parents refused to terminate the pregnancy. After birth, the child was diagnosed with Potter’s syndrome with severe hypoplasia of the lungs, which required mechanical ventilation. In 2 hours after birth, the child developed a tension pneumothorax, which was arrested by performing drainage of the pleural cavity. During the day, the patient received complex treatment in the intensive care unit, despite which, by the 2nd day of life, the death of the child occurred. Currently, there are no guidelines for the treatment of Potter syndrome with proven positive long-term outcomes.Discussion. Children with Potter syndrome do not have the same set of symptoms, but they develop a chain of events leading to a common ultimate result - decreased amount of amniotic fluid. Abnormalities leading to oligohydramnios may include severe hypoplasia, dysplasia, polycystic, obstructive uropathy or renal agenesis. In most cases, the disease occurs sporadically, but there are also forms with transmission of the disorder through successive generations: autosomal dominant or recessive inheritance of polycystic disease, hereditary renal dysplasia caused by mutations in RET, UPK3A genes and other chromosomal abnormalities.Conclusion. Potter syndrome is a set of severe syndromes manifested by abnormalities in the development of kidneys, oligohydramnios, leading to lung hypoplasia, skeletal disorders and other congenital anomalies. The severity of congenital defects included in the set depends on the time periods when oligohydramnios occurred. Despite the availability of experimental therapies, the disease is now considered to be fatal.

Glomerular size in renal dysplasia secondary to obstructive uropathy: A further exploration of the fetal lamb model

2000 ◽  
Vol 35 (11) ◽  
pp. 1651-1655 ◽  
Author(s):  
Hiroaki Kitagawa ◽  
Kevin C. Pringle ◽  
Jane Zuccollo ◽  
Junki Koike ◽  
Koonosuke Nakada ◽  
...  
Keyword(s):  
Obstructive Uropathy ◽  
Renal Dysplasia ◽  
Fetal Lamb ◽  
Glomerular Size

Variation in Major Pulmonary Fissures: Incidence in Fetal Postmortem Examinations and a Review of Significant Extrapulmonary Structural Abnormalities in Sixty Cases

1998 ◽  
Vol 1 (4) ◽  
pp. 289-294 ◽  
Author(s):  
A.W. Bates
Keyword(s):  
Pulmonary Hypoplasia ◽  
Chromosomal Abnormalities ◽  
Renal Dysplasia ◽  
Situs Inversus Totalis ◽  
Postmortem Examination ◽  
Structural Abnormalities ◽  
Appropriate For Gestational Age ◽  
Cystic Renal Dysplasia ◽  
Left Right Asymmetry ◽  
Postmortem Examinations

A retrospective study of 1513 fetal postmortem examination reports from 1967 to 1996 yielded 35 cases with anomalous major pulmonary fissures (2.3%), to which a further 25 cases were added from fetal postmortem examinations performed between 1929 and 1966. Of 60 cases with anomalous fissures, 43 had an absent right horizontal fissure and 8 had a supernumerary left horizontal fissure; the remaining 9 showed various patterns in which one lung lacked major fissures. Histological examination in 29 cases did not reveal any additional pulmonary abnormality and pulmonary maturity was appropriate for gestational age. Additional malformations were present in 40 cases and these were frequently multiple, the most common being central nervous system, cardiovascular, and genitourinary system defects; notable heart malformations (10 cases); hydrocephalus (5 cases); and cystic renal dysplasia (4 cases). Chromosomal abnormalities were demonstrated in six cases although this figure does not reflect their prevalence, as many cases predate the availability of karyotyping. In seven cases, including three with polysplenia syndrome and one with situs inversus totalis, there was evidence of an underlying abnormality of left–right asymmetry, and in 13 cases there was documented pulmonary hypoplasia.

scholarly journals Gall-Bladder Agenesis and Associated Anomalies

HPB Surgery ◽  
1995 ◽  
Vol 8 (4) ◽  
pp. 253-255
Author(s):  
Constantinos Yiangou ◽  
Brian Shorey ◽  
Allan D. Spigelman
Keyword(s):  
Gall Bladder ◽  
Rare Condition ◽  
Congenital Absence ◽  
Congenital Defects ◽  
Ultrasound Scanning ◽  
Associated Anomalies ◽  
Bladder Agenesis ◽  
History Of ◽  
Cardiovascular Anomalies ◽  
Noninvasive Tests

Congenital absence of the gall-bladder is a rare condition. It is sometimes associated with other congenital defects. We report here two cases of gall-bladder agenesis discovered at laparoscopy. Both had a history of skeletal and cardiovascular anomalies. The investigation of patients with absent gall-bladder can be very difficult. Ultrasound scanning is usually inconclusive and further noninvasive tests should be performed to establish the diagnosis and prevent an unnecessary operation. The presence of other congenital defects should alert the clinician to the possibility of gall-bladder agenesis.

scholarly journals VACTERL association in the newborn

2014 ◽  
Vol 2 (02) ◽  
pp. 96-99
Author(s):  
Girish Gopal ◽  
Gangadhar B. Belavadi
Keyword(s):  
Chromosomal Abnormalities ◽  
Congenital Defects ◽  
Vacterl Association ◽  
Esophageal Fistula ◽  
Anal Atresia ◽  
Cardiac Defects

VACTERL association is a non-random association of birth (congenital) defects that affects multiple median and para-median structures. VACTERL association is a useful acronym to denote vertebral abnormalities (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal or radial abnormalities (R), and limb abnormalities (L). Atleast 3 or more defects must be present to make a diagnosis of this condition. Most of these cases occur sporadically, although few cases with chromosomal abnormalities have been reported. Herein, we report a newborn who had most of the defects seen in VACTERL association.

scholarly journals Influence of some etiological factors on development of gynecological patholo-gy and infertility of cats

2019 ◽  
Vol 21 (94) ◽  
pp. 66-73
Author(s):  
O. L. Dmytryshyn ◽  
V. Yu. Stefanyk
Keyword(s):  
Chromosomal Abnormalities ◽  
Reproductive Organs ◽  
Scientific Data ◽  
Congenital Defects ◽  
Hormonal Changes ◽  
Professional Literature ◽  
Ultrasound Diagnostics ◽  
Congenital Aplasia ◽  
Vaginal Cytology ◽  
Definition Of

The article provides an overview of professional literature on reproductive studies of cats, the definition of the main factors influencing the development of infertility in cats: hormonal changes, lack of sufficient stimulus during pairing, leading to ovulation, inability to fuse, ovarian cyst, chronic inflammatory processes in reproductive organs systems, infections, some parasites or the simplest, hereditary problems, including chromosomal abnormalities (genetic or congenital defects such as pseudoharmophioditis, true hermaphroditism, mosaicism, infantilism, freemantry) described congenital aplasia of the ovaries, trauma affecting the reproductive organs. The conditions of detention that considerably affect the reproductive system are considered. It has been established that insufficient stimulation is one of the most common causes of infertility, which is relevant for cats because they are characterized by induced ovulation. Most animals with an abnormal set of sex chromosomes are infertile, treatment methods have not been developed. Inadequate feeding is perhaps the most important cause of infertility in cats. The connection between lack and (or) excess in the diet of Calcium, Phosphorus, Iodine, Cobalt, Cuprum, Manganese, other macro-and micro elements, and inability to reproduce is established. The role of microorganisms in the emergence of infertility of cats of infectious diseases (leukemia, infectious peritonitis, panleukopenia, chlamydia, toxoplasmosis) is considered. Extension of the intraperitoneal period arises from the stage of the anestrus. Such clinical picture is observed in cats older than 8 years with hypothyroidism and hyperadrenocorticism, obesity and cachexia, the appointment of drugs with antinuclear activity. Among gynecological diseases in cats, the most common diseases are pyometra, endometritis and vaginitis. It has been established that the most frequently diagnosed diseases of the uterus of female dogs and cats are cystular hyperplasia of the endometrium in combination with the pythometer, data on the etiopathogenesis of these diseases is given. The scientific data on the application of ultrasound diagnostics, hormonal level studies, vaginal cytology, the use of hysterosalpingography, x-ray for more accurate diagnostics of causes of infertility of cats are given.

Obstructive Uropathy, Renal Dysplasia and Nodular Renal Blastema: is There a Relationship to Wilms Tumor?

1985 ◽  
Vol 134 (2) ◽  
pp. 330-333 ◽  
Author(s):  
Clark D. Gaddy ◽  
M. David Gibbons ◽  
Edmond T. Gonzales ◽  
Milton J. Finegold
Keyword(s):  
Wilms Tumor ◽  
Obstructive Uropathy ◽  
Renal Dysplasia

Anesthesia for Gastroschisis or Omphalocele Repair

2021 ◽  
pp. 215-220
Author(s):  
Caitlin Aveyard
Keyword(s):  
Abdominal Wall ◽  
Amniotic Membrane ◽  
Chromosomal Abnormalities ◽  
Abdominal Wall Defect ◽  
Anesthetic Management ◽  
Surgical Correction ◽  
Congenital Defects ◽  
Full Thickness ◽  
Wall Defect ◽  
The Right

Gastroschisis and omphalocele are congenital defects in the abdominal wall. These two conditions have different embryologic origins, but anesthetic management is similar for both. Gastroschisis is a full-thickness abdominal wall defect resulting in extrusion of abdominal viscera into the amniotic space without amniotic membrane coverage. The defect is usually to the right of the umbilicus. Omphalocele is a defect in the abdominal wall in the umbilical area in which the extruded abdominal contents (intestine, liver, spleen, bladder) are covered in a thin sac. Infants with omphalocele often have associated syndromes or chromosomal abnormalities. With either gastroschisis or omphalocele, the extruded abdominal contents must be covered and kept moist before surgical correction.

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