Case report 299
Congenital agenesis of pubic bones: a case report Cemil Yildiza, Yuksel Yurttasa, Murat Otoa and Murat Kocaoglub Congenital absence of bilateral pubic bones is extremely uncommon. A 2-year-old boy presented with a history of intoeing at our outpatient clinic. The testes were found located at the inguinal canal on ultrasonography. A pelvic radiograph and a spiral computed tomography scan of the pelvis with three-dimensional reconstruction revealed the absence of both pubic bones. In conclusion, we report that the absence of the pubic bones, either as an isolated finding or associated with undescended testes, c 2008 is peculiar. J Pediatr Orthop B 17:299–300 Wolters Kluwer Health | Lippincott Williams & Wilkins.
Introduction The pelvis is composed of three paired bones, including the ilium, ischium and pubis, and the sacrum. The pubic bone consists of a superior ramus, an inferior ramus, and a body. Ossification of the ischial and pubic bones occurs at approximately 18 and 20 weeks of gestational age, respectively. The superior pubic and ischial rami of the full-term neonate are usually ossified. The secondary ossification centers, such as symphysis pubis and the ischiopubic synchondrosis, generally ossify just before and during puberty and adolescence. [1–3]. Several disorders with hypoplasia of the ischium and pubis have been reported. This report presents plain film and computed tomography findings of the case of bilateral aplasia of pubic bones.
Journal of Pediatric Orthopaedics B 2008, 17:299–300 Keywords: congenital, musculoskeletal abnormalities, pubic bones a
Orthopaedics and Traumatology Department and bRadiology Department, Gu¨lhane Military Medical Academy, Etlik, Ankara, Turkey
Correspondence to Dr Yuksel Yurttas, MD, Asst. Professor, General Tevfik Saglam cd, Gu¨lhane Askeri Tıp Akademisi, Ortopedi ve Travmatoloji Klinig˘i, Etlik, Ankara, Turkey Tel: + 90 312 304 55 31 x5531; fax: + 90 312 304 5501; e-mail:
[email protected]
At birth, the ossification is almost complete; however, the ischial and pubic segments remain separated by a cartilaginous tissue, the ischiopubic synchondrosis. Unilateral or bilateral vertical clefts through the middle portion of the superior pubic ramus or two or more separate bone centers can be seen. This finding is usually present in young infants and generally disappears during the first year of life [4,5]. On the other hand, delayed ossification of the pelvic bones is a nonspecific finding Fig. 1
Case report A 2-year-old boy presented with a history of intoeing at our outpatient clinic. There were no hand, foot, or nail deformities. The parents gave a history of spontaneous vaginal preterm delivery on the 35th week of pregnancy. The prepartum history was uneventful. Postnatal medical history was also unremarkable. A physical examination revealed no abnormality except bilateral undescended testes. The testes were found located at the inguinal canal on ultrasonography. A pelvic radiograph revealed the absence of both pubic bones (Fig. 1a). A spiral computed tomography scan of the pelvis with threedimensional reconstruction was performed and it confirmed the bilateral absence of the pubic bones (Fig. 1b, c). Pelvis and thigh magnetic resonance imaging was recommended to assess the muscle groups. Urine and blood tests were normal. Echocardiography was also normal.
Discussion The ischiopubic component of the pelvis starts to develop antenatally between the fifth and sixth months of fetal life from an ischial and a pubic ossification center. c 2008 Wolters Kluwer Health | Lippincott Williams & Wilkins 1060-152X
(a) An anteroposterior pelvis radiograph shows bilateral absence of pubic bones. (b, c) Three-dimensional reconstructions of spiral computed tomography data by using maximum intensity projection (b) and shaded surface display (c) algorithm confirm the lack of pubic bones. Rotation of the right ischium was also noted.
DOI: 10.1097/BPB.0b013e328311d3e9
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Journal of Pediatric Orthopaedics B 2008, Vol 17 No 6
that can be generalized or focal. Generalized retardation occurs predominantly in endocrine disorders, or in association with malnutrition, chronic illness, or chromosomal anomalies. Focal retardation occurs with many constitutional diseases of bone. Several disorders with hypoplasia of the ischium and pubis include small patella syndrome, achondrogenesis I and II, hypochondrogenesis, camptomelic dysplasia, spondiloepiphyseal dysplasia congenita, cleidocranial dysplasia, hypophosphatasia, or metatropic dwarfism [6]. Recognition of the agenesis of pubic bones is of clinical importance, because bone abnormalities can be seen in conjunction with other musculoskeletal and urogenital abnormalities such as teratologic hip dislocation, patellar hypoplasia, undescended testis, and hypospadias [7,8]. In our case, development of the bilateral pubic bone was absent and the testicles were undescended bilaterally. We suggest that aplasia of pubic bones in this patient is because of deficiency or absence of the previously mentioned ossification centers. Absence of family history and similar manifestations in the parents and siblings suggest that a sporadic genetic mutation is the most likely etiology.
there is no increased incidence of hip dislocation [9]. In our case, both the hips were normal. Our case was also evaluated for the Prune Belly syndrome, which consists of undescended testicles, obstructive uropathy, absent or hypoplastic abdominal muscles, and musculoskeletal anomalies [8]. In our case, on clinical examination and ultrasonography, the abdominal muscles and urinary tract were normal In conclusion, we report that the absence of the pubic bones, either as an isolated finding or associated with undescended testes, is peculiar.
References 1 2 3 4
5 6 7 8
Pelvic bone anomalies without bladder exstrophy and epispadias complex are rare conditions. In cloacal exstrophy, the inferior part of the innominate bone is separated and
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