Detection of renal anomalies by abdominal palpation in newborn infants.

In a new technique of palpation for renal anomalies in the newborn one hand supports the infant while the fingers of the other hand support the loin and the thumb explores the abdomen. In a series of 11 000 otherwise normal newborn children superficial palpation detected 11 renal anomalies, and deep palpation led to the discovery of another 42 anomalies. One of two other series in which palpation was performed bimanually gave a similar incidence of renal anomalies (0-5%). Early discovery of an asymptomatic anomaly enables early treatment of the complications that are often found in patients with congenital renal anomalies detected in later life.     

Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl

Vertebral and rib anomalies occur because of defects at different stages of embryo development and result in different malformations. Developmental field defects are the term to describe the alterations in the biological units which occur because of defects in the pattern formation. Short trunk dwarfism associated with vertebral and rib anomalies is one of the well-known conditions described under various names. Here we report on a 20-month-old female with short trunk dwarfism involving an asymmetrically malformed thorax with kyphoscoliosis presenting skeletal anomalies of spine and ribs and additional multiple associated anomalies such as downslanting palpebral fissures, long philtrum, high palate, rocker bottom feet, dextroposition of heart, cascade stomach, retroposition of bulbi duodeni and bilateral renal cortical thinning. Ophthalmological examination revealed Duane anomaly. No mutation was detected in the analysis of the DLL3 gene. The malformations in the patient are related to different progenitor fields in the early development of the embryo and the presented combination of Duane anomaly with the associated anomalies has not been reported in the literature.     

Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications

Branchio-oto-renal (BOR) syndrome is characterized by ear malformations, cervical fistulas, hearing loss, and renal anomalies. It is an autosomal dominant disorder with variable clinical manifestations. The most common features of BOR syndrome are branchial, hearing, and renal anomalies. However, many affected subjects have been observed with branchial-cleft anomalies and hearing loss but without renal anomalies, a condition called "branchio-otic" (BO) syndrome. It is logical to question whether the BOR and BO syndromes are allelic or whether they represent distinct genetic entities. We identified a very large extended family whose members had branchial and hearing anomalies associated with commissural lip pits that segregated in an autosomal dominant fashion. Using a genomewide search strategy, we identified genetic linkage, with a maximum LOD score of 4.81 at recombination fraction 0, between the BO phenotype and polymorphic marker D1S2757 in the genetic region of chromosome 1q31. This is the first report of linkage for a second gene associated with BOR syndrome. The findings have important clinical implications and will provide insight into the genetic basis of BOR syndrome.     

Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association

Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel''s diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature.     

Clinical importance of significant asimptomatic bacteriuria in newborns and infants during early postnatal period

The aim of the study was to detect newborns at risk for developing renal impairment, and to point out the importance of significant asimptomatic bacteriuria in perinatal period and early infancy. Severe urinary tract anomalies are very often accompanied only by asimptomatic bacteriuria in perinatal period. Three urinalysis ware done after delivery. 212 newborns with significant asimptomatic bacteriuria underwent ultrasound examination, and were followed up to three months. Those with normal findings and with passing bacteriuria in the first 2 months were excluded. Group of 52 newborns underwent radioisotope examination. Frequency of urinary tract anomalies in newborns was 34.6%. Increased risk for renal impairment had children with urinary tract anomalies in close family, urinary tract infection or bacteriuria, EPH gestosis and prepartal symptoms of febrile infection in mother, children with IUGR, strangulated umbilical cord, prolonged jaundice and attacks of peripheral cyanosis in perinatal period.     

Sequential pattern of limb anomalies in Japanese monkeys on Awajishima Island

X-ray examinations of Japanese monkeys (Macaca fuscata) in two groups on Awajishima Island revealed that 11 of 46 monkeys from the Kaminada group and 5 of 37 monkeys from the Shirasaki group had limb anomalies. All the cleft hands, which comprised most of the anomalies in these Awajishima monkeys, involved reduction of one, two, or three fingers. The digital reductions showed a definite pattern: cleft hands with four, three, or two fingers lacking the digital rays III, III & IV, or II, III & IV, respectively. A similar teratological pattern has been recognized in the anomalies of other troops of Japanese monkeys. The presence of such a common teratological pattern among Japanese monkeys may be related to the high incidence of the anomalies and suggests that they may have a common etiological factor.     

Renal-hepatic-pancreatic dysplasia and its variants.

A family is reported, in which two pregnancies resulted in the birth of a female fetus with multiple congenital anomalies, including renal cystic dyplasia, pancreatic fibrosis with dilated pancreatic duct, and some anomalies of the face and genitalila. The pathology of the second fetus was revealed by prenatal ultrasonographic examination. In the relevant literature 20 additional cases of renal-hepatic-pancreatic dysplasia (RHPD) could be found. It is demonstrated that cystic renal dysplasia associated with pancreatic fibrosis or cystofibrosis (with normal liver) as well as cystic renal dysplasia associated with hepatic fibrosis (with normal pancreas) should be considered as incomplete RHPD variants. In 6 cases out of 22, the infants had some features of the apolysplenia complex, including situs inversus and/or heart defects. The association of RHPD and apolysplenia has been proved to be an autosomal recessively inherited syndrome. Most probably RHPD without apolysplenia represents a separate entity with autosomal recessive mode of inheritance as well.     

Partial trisomy 4q due to familial 2/4 translocation

Summary The case of a 5-year-old boy with partial trisomy for the long arm of chromosome No. 4 is described. The pattern of abnormal development in this and in 12 previously reported cases is similar, but the phenotype is not as characteristic as that associated with some other types of chromosomal imbalance. The most consistent features are: growth and mental retardation, small head with narrow forehead, short philtrum, relatively large ears with incomplete differentiation of the pinnae, cryptorchidism, oedema of the hands and/or feet, and renal anomalies. Abnormal development of the thumb was present in 4 of 13 cases. Eleven of the 13 families had balanced translocation carriers whose future offspring would be at increased risk for a mental retardation syndrome.     

Prenatal sonographic evaluation and postnatal outcome of renal anomalies

OBJECTIVE:

To determine the prognosis of antenatally detected renal anomalies by sonographic evaluation.

MATERIALS AND METHODS:

This was a follow-up study of all antenatally detected renal anomalies from January 2008 to Dec 2009 referred to fetal medicine clinic. Prenatal evaluation was done and cases were divided into four groups depending upon their prenatal sonographic findings. Post natal follow-up was done up to one year in cases of live babies. Autopsy was carried out in still born fetus after consent.

RESULTS:

The renal anomaly was detected in 55 cases, which were fully followed. The prognosis was said to be poor for group I cases with gross extra renal anomaly along with the renal anomaly, and for group II in which there was organic renal pathology with loss of renal function suggested by non-visualization of bladder and almost absent liquor. Prognosis was guarded and depended upon the gestational age of presentation in group III, which had obstructive uropathy; prognosis was good in group IV cases, which were mild, unilateral or which presented late.

CONCLUSION:

Prenatal sonographic evaluation gives reasonably accurate picture of the prognosis and can be very helpful in counseling the parents regarding prognosis and help in deciding the timing and route of delivery.     

Associated malformations in cases with neural tube defects

Infants with neural tube defects (NTDs) may have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population. The prevalences at birth of associated malformations in infants with NTDs were collected between 1979 and 2003 on all infants born in the area covered by the registry of congenital anomalies of Northeastern France in 334,262 consecutive births. Of the 360 infants with NTDs born during this period, 20.5 % had associated malformations. Associated malformations were more frequent in infants who had encephalocele (37.5 %) than in infants with anencephaly (11.8 %) or infants with spina bifida (23.7 %). Malformations in the face (oral clefts), in the musculoskeletal system, in the renal system, and in the cardiovascular system were the most common other anomalies. In conclusion the overall prevalence of malformations, which was one in five infants, emphasizes the need for a thorough investigation of infants with NTDs. A routine screening for other malformations especially facial clefts, musculoskeletal, renal and cardiac anomalies may need to be considered in infants with NTDs, and genetic counseling seems warranted in most of these complicated cases.     

Renal agenesis and the Fraser syndrome: 4 observations

The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.     

Genetic Basis of Ureterocele

Congenital anomalies of the kidney and urinary tract (CAKUT) form a group of heterogeneous disorders that affect the kidneys, ureters and bladder, with frequent asynchronous presentations and multiple CAKUT associations in the same individual. Urinary tract formation is a complex process, dependent of the interaction of multiple genes and their sub-product. The same genic alterations can lead to different molecular expressions and different morphological anomalies. The ureterocele is a cystic dilation of the distal intramural ureter, resulting in obstruction of urine flow, dilation of the ureter and renal pelvis and loss of renal function. Two key steps in the urinary tract ontogenesis may be related to ureterocele development: formation and migration of the ureteric bud and its incorporation in the bladder. This review aims to describe the morphological, cellular and biochemical steps, as well as the genes involved in the occurrence of this anomaly.     

Preliminary observations on isotretinoin-induced ear malformations and pattern formation of the external ear.

Retinoic acid is a morphogenic substance capable of inducing a variety of limb malformations, including duplications and reduction-type defects. Whether retinoic acid plays a similar role in controlling pattern formation of other vertebrate structures is unclear. Many fetuses and infants exposed to isotretinoin (13-cis-retinoic acid) in utero have a characteristic pattern of anomalies, chiefly involving brain, craniofacial, and thymic morphogenesis. Among the craniofacial anomalies, external ear malformations are common and the specific types of auricular malformations include partial duplications, and tissue reductions and displacements. These similarities to the types of limb malformations that retinoic acid can induce suggest that retinoic acid may play an important role in controlling pattern formation of facial structures.     

A child with Beckwith-Wiedemann syndrome and posterior urethral valves

Beckwith-Wiedemann syndrome is a somatic overgrowth syndrome characterized by a variable incidence of congenital anomalies, including hemihypertrophy, omphalocele, macroglossia and renal malformations. We report a child with Beckwith-Wiedemann syndrome and posterior urethral valves. Urethral valve resection was successfully performed under general anesthesia after voiding cystourethrography. This is the first report of Beckwith-Wiedemann syndrome associated with posterior urethral valves.     

Plattenanomalien beiEchinocorys sulcata (Goldfuss 1826) aus dem Dan (Alttertiär) von Dalbyover,Dänemark

In a collection of 2000 specimens of the echinoidEchinocorys sulcata from the Danian of Dalbyover, northern Jutland, Denmark, two percent of the coronae investigated show characteristic coronal plate anomalies which are largely missing in other echinoid species. These anomalies are formed by split coronal plates or mosaic-like plate arrangements instead of regularly grown plates. Plate anomalies occurring in ambulacral and interambulacral zones, classified into 14 different types, have been used for a statistical analysis. Data on the relative age of the echinoid animals with anormal coronal plates, and on the most abundant types of plate anomalies are given. Two specimens ofEchinocorys sulcata from the same locality show deviations from the regular pentameric pattern and comparable finds from other localities and of otherEchinocorys species were incorporated in the analysis. The anomalies described here are named forma aegrainconstans n.f. Literature data on echinoid coronal plate anomalies, which have been related to coronal deformations caused by evironmental parameters, are discussed.     

Non-allelic heterogeneity in familial unilateral renal adysplasia

We report three families with dominant unilateral renal adysplasia without vesico-ureteral reflux. No dysmorphia or anomalies were evident in the reproductive system. Ophthalmological examination excluded the presence of optic nerve coloboma or other ocular anomalies. No mutations were detected in the EMX(2) and in PAX(2) genes of affected members. Other homeobox genes could be responsible for this anomaly in these three families.     

Congenital anomalies of the kidney and urinary tract: An embryogenetic review

Congenital anomalies of the kidney and urinary tract (CAKUT) represent a broad range of disorders that result from abnormalities of the urinary collecting system, abnormal embryonic migration of the kidneys, or abnormal renal parenchyma development. These disorders are commonly found in humans, accounting for 20–30% of all genetic malformations diagnosed during the prenatal period. It has been estimated that CAKUT are responsible for 30–50% of all children with chronic renal disease worldwide and that some anomalies can predispose to adult‐onset diseases, such as hypertension. Currently, there is much speculation regarding the pathogenesis of CAKUT. Common genetic background with variable penetrance plays a role in the development of the wide spectrum of CAKUT phenotypes. This review aims to summarize the possible mechanisms by which genes responsible for kidney and urinary tract morphogenesis might be implicated in the pathogenesis of CAKUT. Birth Defects Research (Part C) 102:374–381, 2014. © 2014 Wiley Periodicals, Inc.     

Oligohydramnios syndrome and XYY karyotype.

A case of oligohydramnios syndrome was found to have an XYY karyotype and an inherited 9qh inversion. It is suggested that normal and extra Y chromosomes are a predisposing factor in the aetiology of severe congenital renal anomalies.     

The Peters' plus syndrome: a review

Peters' plus syndrome is an infrequently described entity that combines anomalies in the anterior chamber of the eye with other multiple congenital anomalies, and a developmental delay. Major symptoms are extremely variable anterior chamber anomalies, cupid bow of the upper lip, cleft lip and palate, short stature, broad hands and feet, and variable mental delay. The syndrome follows an autosomal recessive pattern of inheritance. The etiology is unknown, but may involve abnormal neural crest development. A review of the pertinent literature is provided.