A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three Siblings

The clinical findings are described in three siblings with a syndrome of microcephaly and multiple congenital abnormalities. All three infants had congenital anomalies of the limbs, described as flexion deformities. Infant 2 showed atrophic gyri and absence of the corpus callosum, with atrophy of cerebrum, cerebellum, and pons. Infant 2 exhibited unusual canine facies. Chromosomal studies were normal on infant 3 (leucocyte and skin cultures). Leucocyte cultures from the mother and father revealed no cytogenetic abnormality.

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Heterotopic Nephrogenic Rests in the Colon and Multiple Congenital Anomalies: Possibly Related Association

Pediatric and Developmental Pathology ◽

10.1007/s10024-002-0055-4 ◽

2002 ◽

Vol 5 (6) ◽

pp. 587-591 ◽

Cited By ~ 11

Author(s):

Dhanpat Jain ◽

Maritza Martel ◽

Miguel Reyes-Múgica ◽

Vinita Parkash

Keyword(s):

Congenital Anomalies ◽

Congenital Abnormalities ◽

Renal Tissue ◽

Vacterl Association ◽

Rare Occurrence ◽

Multiple Congenital Anomalies ◽

Cardiac Anomalies ◽

Patient Reported ◽

Nephrogenic Rests ◽

Related Association

Heterotopic renal tissue (HRT) in the wall of the colon is a very rare occurrence, with only five cases published. Our patient is only the second patient reported to have this abnormality in the absence of sirenomelia. We describe colonic HRT in a child, associated with multiple congenital anomalies. The congenital abnormalities were of the VACTERL type, accompanied by valvular cardiac anomalies that were clinically diagnosed as Shone syndrome. The HRT was not apparent clinically or grossly. Microscopically, multifocal islands of renal tissue consisting of glomeruli, cystically dilated tubules, and blastema were seen in all layers of the bowel, and simulated “cystic partially differentiated nephroblastoma.” Our case provides further support to the belief that VACTERL association and sirenomelia represent related entities.

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New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia

Clinical Dysmorphology ◽

10.1097/00019605-199607000-00007 ◽

1996 ◽

Vol 5 (3) ◽

pp. 231???240 ◽

Cited By ~ 16

Author(s):

S. A. TEMTAMY ◽

M. A. SALAM ◽

E. H.A. ABOUL-EZZ ◽

H. A. HUSSEIN ◽

S. A. H HELMY ◽

...

Keyword(s):

Mental Retardation ◽

Connective Tissue ◽

Corpus Callosum ◽

Autosomal Recessive ◽

Congenital Abnormalities ◽

Craniofacial Dysmorphism ◽

Connective Tissue Dysplasia ◽

Multiple Congenital Abnormalities

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Prenatal diagnosis of right aberrant subclavian artery with other congenital anomalies at I trimester of gestation

10.21516/2413-1458-2019-18-2-133-137 ◽

2019 ◽

Author(s):

M.V. Medvedev, N.A. Altynnik, A.I. Zamiatina et all

Keyword(s):

Prenatal Diagnosis ◽

Subclavian Artery ◽

Congenital Anomalies ◽

Congenital Abnormalities ◽

Prenatal Ultrasound ◽

Ultrasound Diagnosis ◽

Aberrant Right Subclavian Artery ◽

Aberrant Subclavian Artery ◽

The Right ◽

Multiple Congenital Abnormalities

Six cases of prenatal ultrasound diagnosis of aberrant right subclavian artery at 12+2–14+2 weeks of gestation are presented. To 5 cases earlier published was added a case of prenatal diagnosis of the right aberrant subclavian artery in fetus with multiple congenital abnormalities at 13+3 weeks of gestation. Opportunities of early prenatal ultrasound diagnosis of the right aberrant subclavian artery on first screening are discussed.

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SYNDROME OF OVARIAN AGENESIS (CONGENITALLY APLASTIC OVARIES)

PEDIATRICS ◽

10.1542/peds.8.3.368 ◽

1951 ◽

Vol 8 (3) ◽

pp. 368-379

Author(s):

HENRY K. SILVER

Keyword(s):

Short Stature ◽

Congenital Anomalies ◽

Congenital Abnormalities ◽

Moderate Degree ◽

Cubitus Valgus ◽

Proved Case ◽

Preadolescent Girl ◽

Ovarian Agenesis ◽

Multiple Congenital Abnormalities

A proved case of the syndrome of ovarian agenesis, short stature, multiple congenital abnormalities and high urinary gonadotropins in a 2 year, 8 month old female is presented. Congenital anomalies included webbed neck, abnormalities of the feet, a moderate degree of cubitus valgus and defects of the vertebrae. Only slight retardation of epiphyseal development was present by the fourth year of life. Because of the marked variations in the levels of urinary gonadotropins in this patient, it is suggested that more than one assay should be performed in a preadolescent girl before it is concluded that the gonadotropins are not increased.

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Horseshoe Lung with Multiple Congenital Anomalies

Acta Radiologica ◽

10.1177/028418518702800620 ◽

1987 ◽

Vol 28 (6) ◽

pp. 751-754 ◽

Cited By ~ 13

Author(s):

N. D. Hawass ◽

M. G. Badawi ◽

J. A. Fatani ◽

A. A. Meshari ◽

Y. B. Edrees

Keyword(s):

Imperforate Anus ◽

Congenital Abnormalities ◽

Horseshoe Kidney ◽

Conventional Radiography ◽

Multiple Congenital Anomalies ◽

Anatomic Study ◽

Horseshoe Lung ◽

Injection Techniques ◽

Contrast Medium Injection ◽

Multiple Congenital Abnormalities

A detailed radiologic and anatomic study of a 20-week-old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, imperforate anus, and a single tracheo-esophageal tube (persistent esophago-trachea). The association of horseshoe lung with persistent esophago-trachea, microurethra, megacystis, bilateral hydroureters, hydronephrosis and phocomelia is, we believe, the first ever to have been recorded in the literature. Twenty-one cases of horseshoe lung have been reported in the literature. These cases were reviewed and a comparison with the present case is presented. The embryologic basis for these anomalies is also briefly discussed.

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Novel splicing mutation in B3GAT3 associated with short stature, GH deficiency, hypoglycaemia, developmental delay and multiple congenital anomalies

Endocrine Abstracts ◽

10.1530/endoabs.51.p021 ◽

2017 ◽

Author(s):

Samuel Bloor ◽

Dinesh Giri ◽

Mohammed Didi ◽

Senthil Senniappan

Keyword(s):

Short Stature ◽

Developmental Delay ◽

Congenital Anomalies ◽

Gh Deficiency ◽

Splicing Mutation ◽

Multiple Congenital Anomalies

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One More Tissue Is Required to Understand the Cytogenetics of Intellectual Disability in Patients With Multiple Congenital Abnormalities

10.26226/morressier.5a6ef3eed462b80290b57ba4 ◽

2018 ◽

Author(s):

Anna Kashevarova

Keyword(s):

Intellectual Disability ◽

Congenital Abnormalities ◽

Multiple Congenital Abnormalities

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A Rare Case of Athelia in a Crossbred Cow

THE INDIAN JOURNAL OF VETERINARY SCIENCES AND BIOTECHNOLOGY ◽

10.21887/ijvsbt.v12i3.7117 ◽

2017 ◽

Vol 12 (3) ◽

Author(s):

R. Uma Rani

Keyword(s):

Dairy Cattle ◽

Congenital Anomalies ◽

Rare Case ◽

Congenital Abnormalities ◽

Economic Value ◽

Therapeutic Management ◽

Rare Occurrence ◽

Crossbred Cow

The udder is a very important organ and has economic value in dairy cattle. Though highly vulnerable to various disease conditions, e.g. mastitis, congenital anomalies in the udder are of rare occurrence (Dandale et al., 2013). Congenital abnormalities of the mammary system in cows comprise absence of teats, glands, supernumerary teats and imperforate teats. Absence of teat is extremely rare, but isolated cases in which the teats were only represented by slight eminences have been met with (O’ Connor, 1980). Athelia was reported in buffaloes by Sailendra and Sandhya (1998) and Vidyasagar (2009) and in a Japanese black heifer by Ghanem et al. (2011). In the present paper, a rare case of athelia in a Jersey crossbred cow and its therapeutic management by permanent cessation of lactation is reported.

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