ISSN Print 2500–1094
ISSN Online 2542–1204
Bulletin of RSMU
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
CLINICAL CASE
A rare case of combination trichorinophalangeal syndrome and Mayer-Rokitansky-Küster-Hauser syndrome
About authors
Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia
Correspondence should be addressed: Zalina K. Batyrova
Tolbuhina, 3/2, k. 59, Moscow, 121596,Russia; ur.liam@rotcodanil
About paper
Acknowledgments: SR Grover from Murdoch Children's Research Institute, Royal Children's Hospital for advices in formulating the concept of the manuscript, AV Asaturova head of the 1st pathoanatomical department of the Kulakov Federal State Budgetary Institution NMICAGP for help in editing the manuscript.
Author contribution: Batyrova ZK, Bolshakova AS — concept; Batyrova ZK, Kruglyak DA, Uvarova EV, Chuprynin VD, Mamedova FSh — collection and processing of material; Batyrova ZK, Bolshakova AS, Kumykova ZKh — text writing; Kumykova ZKh, Sadelov IO, Trofimov DYu — editing. All authors approved the final manuscript. All authors were involved in the clinical management of the patient and contributed to the final diagnosis.
Received: 2023-06-17
Accepted: 2023-06-29
Published online: 2023-06-27
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Fig. 1. X-ray picture of the bones of the upper (A) and lower (B) extremities with multiple exostoses (shown by arrows) and metal structures after surgery
Fig. 2. Typical dysmorphic features of the patient: slowly growing hair, a long pear-shaped nose with a bulbous tip (A) shortening of the hands with enlargement of interphalangeal joints (B) and feet (C)
Fig. 3. Transabdominal ultrasound examination: А — rudimentary uterine rudiment (transverse scanning); В — the same structure in longitudinal scanning
Fig. 4. Laparoscopic view of the internal genital organs: left uterine rudiment with signs of functioning (A); right uterine rudiment (muscle nubbin) (B)
