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A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.

Konya MN, Elmas M, Erginoğlu SE, Yeşil M - Int J Surg Case Rep (2014)

Bottom Line: Despite successful serial casting and subsequent achilloplasty a clinical relapse was observed in our patient.We report that CF may be associated with rare genetical abnormalities.It should be included in differential diagnosis of patients with persistent CF.

View Article: PubMed Central - PubMed

Affiliation: Afyon Kocatepe University, School of Medicine, Department of Orthopaedics and Traumatology, Afyon, Turkey. Electronic address: nurikonya@hotmail.com.

No MeSH data available.


Related in: MedlinePlus

Talipes equinovarus deformity (club foot) after casting.
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fig0005: Talipes equinovarus deformity (club foot) after casting.

Mentions: Our patient was a 20-month old boy and the first child from his father's second marriage. He had no siblings. 35 year old mother did not have regular doctor visits during prenatal period. No consanguinity existed between his parents. Family had no history of any genetic diseases. He was born as a mature baby with a weight of 2800 g in the hospital. There was no history of hypoxia during pregnancy or birth. He never stayed in an incubator. He was still breastfeeding. His height and weight were under standard deviation. He had no epileptic seizures and no surgery to cause a sequelae of clubfoot. He had bilateral talipes equinovarus deformities (club foot) and had serial casting for five times at different clinics with Ponseti technique (see Fig. 1). Once recurrence was observed subsequent achilloplasty was performed. Pelvic radiography demonstrated developmental dysplasia of the hip on the left side (see Fig. 2). Patient had atypical facial shape and severe joint laxity. A comprehensive MRI assessment of the brain demonstrated Dandy–Walker malformation and also concurrent cerebellar vermis hypoplasia (see Fig. 3), a wide open anterior fontanelle, motor and mental retardation, micrognathia, microcephaly and retrognathia (see Fig. 4). After genetical evaluation and tests were performed the patient was diagnosed 3C (Ritscher–Schinzel) syndrome.


A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.

Konya MN, Elmas M, Erginoğlu SE, Yeşil M - Int J Surg Case Rep (2014)

Talipes equinovarus deformity (club foot) after casting.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4336385&req=5

fig0005: Talipes equinovarus deformity (club foot) after casting.
Mentions: Our patient was a 20-month old boy and the first child from his father's second marriage. He had no siblings. 35 year old mother did not have regular doctor visits during prenatal period. No consanguinity existed between his parents. Family had no history of any genetic diseases. He was born as a mature baby with a weight of 2800 g in the hospital. There was no history of hypoxia during pregnancy or birth. He never stayed in an incubator. He was still breastfeeding. His height and weight were under standard deviation. He had no epileptic seizures and no surgery to cause a sequelae of clubfoot. He had bilateral talipes equinovarus deformities (club foot) and had serial casting for five times at different clinics with Ponseti technique (see Fig. 1). Once recurrence was observed subsequent achilloplasty was performed. Pelvic radiography demonstrated developmental dysplasia of the hip on the left side (see Fig. 2). Patient had atypical facial shape and severe joint laxity. A comprehensive MRI assessment of the brain demonstrated Dandy–Walker malformation and also concurrent cerebellar vermis hypoplasia (see Fig. 3), a wide open anterior fontanelle, motor and mental retardation, micrognathia, microcephaly and retrognathia (see Fig. 4). After genetical evaluation and tests were performed the patient was diagnosed 3C (Ritscher–Schinzel) syndrome.

Bottom Line: Despite successful serial casting and subsequent achilloplasty a clinical relapse was observed in our patient.We report that CF may be associated with rare genetical abnormalities.It should be included in differential diagnosis of patients with persistent CF.

View Article: PubMed Central - PubMed

Affiliation: Afyon Kocatepe University, School of Medicine, Department of Orthopaedics and Traumatology, Afyon, Turkey. Electronic address: nurikonya@hotmail.com.

No MeSH data available.


Related in: MedlinePlus