Horseshoe kidney is the most common congenital deformity among renal fusion anomalies, with a male-to-female ratio of 2 : 1. It occurs in 0.25% of the population [
In the literature, there are many reports showing the significant association between renal anomalies and various ear anomalies. Ear and renal anomalies are also components of many multiple congenital anomaly (MCA) syndromes.
In this report, we describe a boy whose phenotypical features are consistent with MCA syndromes but not specific to any of these syndromes, and we suggest that the presence of these novel findings may represent a newly recognized, separate syndrome.
A 9-year-old boy admitted to the hospital because of the myoclonic jerks of both of his hands and limbs. He had these myoclonic jerks for 2 years, and these movements lasted for 2-3 seconds. The patient was born at term after a normal pregnancy, but because he was born at home his birth weight, birth length and head circumference are unknown. He did not experience any perinatal difficulties. Both parents were healthy, and their examination was normal. There was no history of consanguinity or pregnancy loss. His siblings were healthy with normal psychomotor development, and their examinations were unremarkable. There were no congenital abnormalities in family members. There was no subsequent developmental delay in his motor abilities and cognition. In his physical examination, he had a dysmorphic face (wide forehead, hypertelorism), low-set and cup-shaped ears, arachnodactyly, and mild mental retardation (Figures
The presence of arachnodactyly.
The presence of low-set and cup shaped ears.
Dysmorphic facial appearance of the patient.
The presence of mega cisterna magna in the retrocerebellar region.
The presence of horseshoe kidney in abdominal ultrasonography.
Horseshoe kidney is the most common congenital deformity among renal fusion anomalies. Extra-renal pathologies may be associated horseshoe kidney such as anomalies of the skeletal system, genital anomalies, cardiac anomalies and digestive disease. The study including 84 patients with kidney position and fusion anomalies have reported that 21 (25.4%) of these patients also had extra-renal pathology such as skeletal, genital and cardiac anomalies, digestive disease, facial malformations and endocrine disorders. As a result, renal-urinary anomalies and structural extra-renal malformations must be evaluated when renal ectopia or horseshoe kidney is diagnosed [
Congenital asymmetric crying facies (ACF) is considered to be caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle on one side of the mouth [
Orocraniodigital syndrome (Juberg-Hayward syndrome) is a rare condition with microcephaly, palatal/lip clefts, and thumb abnormalities [
Multiple congenital anomaly syndromes are a broad spectrum of syndromes involving CHARGE association syndrome, Townes-Brocks syndrome, oculoauriculovertebral spectrum, BOR syndrome, diabetic embryopathy, Treacher Collins syndrome, Nager syndrome, and Miller syndrome [
Defined syndromes partially including clinical features of our patient.
Syndromes | Clinical features of our patient | ||||||
---|---|---|---|---|---|---|---|
Horseshoe kidney | Mega cisterna magna | Ear anomalies | Arachnodactyly | Wide/broad forehead | Hypertelorism | Mental retardation | |
Del(22q11.2) syndromes | + | + | + | − | − | + | + |
Frontonasal dysplasia | − | − | + | − | − | + | + |
Dandy-Walker malformation | − | + | − | − | − | + | + |
Noonan syndrome | − | − | + | − | + | + | + |
Robinow syndrome | − | − | + | − | − | + | − |
Wolf-Hirschhorn syndrome | − | − | + | − | + | + | + |
Cri-du-chat syndrome | + | − | − | − | − | + | + |
Cat-eye syndrome | + | − | + | − | − | + | + |
CHARGE association | + | − | + | − | + | − | + |
Alagille syndrome | + | − | − | − | + | − | + |
Arthrogryposis multiplex congenita | − | − | − | + | − | + | − |
VATER (VACTERL) association | + | − | + | − | − | − | − |
Fetal alcohol syndrome | + | − | + | − | − | − | + |
Fanconi anemia | + | − | + | − | − | + | − |
Kabuki syndrome | + | − | − | − | − | − | + |
Agnathia | + | − | + | − | − | − | − |
Congenital asymmetric crying facies (ACF) | − | + | + | − | − | + | + |
LEOPARD syndrome | − | − | + | − | − | + | + |
The 22q11.2 deletion syndromes are a group of conditions with a deletion in the long arm of chromosome 22. They share a characteristic spectrum of congenital cardiac defects with wide ranging noncardiac congenital anomalies. They include endocrine abnormalities, immunodeficiency (77%), cardiovascular malformations (75%), craniofacial features, skeletal abnormalities, renal abnormalities (37%), CNS manifestations, and behavior phenotype. Our case had some of these clinical features including low-set ears, horseshoe kidney, mental retardation, and mega cisterna manga. Although our case had arachnodactyly, this feature has not been reported so far in this syndrome.
In the literature there are many reports showing that renal, head and, central nervous system anomalies can be components of the congenital anomaly syndromes. Since the existing anomalies of our case were not consistent with any of the described syndromes, we suggest that the presence of these anomalies could represent a new and separate syndrome.
Çapan Konca, M.D., wrote the first draft of the manuscript. An honorarium, grant, or other form of payment was not given to anyone to produce the paper. Çapan Konca was responsible study and designer writing the paper Bahar Çaliskan contributed to the writing of the manuscript. Mehmet Ali Tas made the decision to submit the paper for publication.