Obstructed Hemi Vagina with Ipsilateral Renal Agenesis (OHVIRA) syndrome is a rarely encountered müllerian duct anomaly. Delayed diagnosis is common due to normal onset of puberty and menstruation. We report a case of a woman in her early 20s with a background history of multiple emergency department visits, ward admissions and surgeries for chronic abdominal pain. She was reviewed at 1 month postlaparotomy for recurrent pelvic abscess and was finally diagnosed to have an OHVIRA syndrome, 11 years after her first clinical presentation. Excision of the vaginal septum completely resolved her symptoms. We are reporting this case to highlight the clinical implications resulting from the delayed diagnosis, to look into factors contributing to the delay and to highlight the importance of having a high index of suspicion to diagnose this unique condition.
47 XYY syndrome is a sporadic condition in which the human male receives an extra Y chromosome. Few ocular associations have been documented. The authors report the first case of 47 XYY associated with morning glory syndrome, frontonasal meningoencephalocele, and midfacial defects.
We report a rare case of laryngotracheal anomaly and its possible etiology and mode of presentation. A teenager presented with voice change and a neck lump. Investigations revealed a laryngeal anomaly in which the larynx was hyperdescended. It was accompanied by low lying thyroid gland and hyoid bone together with an absence of a cervical segment of the esophagus and trachea. The anomaly only became noticeable secondary to pubertal changes in the thyroid cartilage of the teenager. An embryological defect during the formation of the laryngotracheal tube and esophagus is a possible explanation of this anomaly. The present case probably represents the third reported of its kind.
Congenital absence of the pericardium is a rare condition,which is frequently missed due its subtle presentation. It may be misdiagnosed as another condition causing right heart dilatation such as an intracardiac shunt. We report the finding of diastolic pressure alternans during cardiac catheterization in this single case report of a patient with congenital total absence of the pericardium. The occurrence of this phenomenon is hypothesized to be due to excessive cardiac hypermobility and paradoxical septal movement. We propose that this finding may be a useful clue to the diagnosis.
Transverse vaginal septum (TVS) is a rare obstructive genital tract anomaly. It is associated with primary amenorrhoea and typically presents with cyclical abdominal pain due to obstruction of the menstrual flow. Caudal regression syndrome (CRS) is also a rare congenital anomaly that is frequently associated with anomalies of the neurological, musculoskeletal, cardiac, genitourinary and gastrointestinal systems. Obstructive genital tract anomaly in CRS is exceptionally rare. This report describes the case of a girl in early adolescence with underlying CRS who presented with severe abdominal pain associated with primary amenorrhoea. Clinical and radiological assessment revealed 'haematocolpos' manifesting as a tender 20 weeks' size abdominal mass and an absent vaginal opening. TVS was identified during examination under anaesthesia. The patient subsequently underwent a successful vaginoplasty with no recurrence of symptoms after 2 years.
Absence of the distal crease of the fingers is usually associated with a flexion deformity. A single crease of one or more fingers is found in many syndromes. We present this report as a rare case of absence of interphalangeal crease of the right ring finger with restriction of flexion but without any other anomaly.
Congenital bilateral agenesis of the tibialis anterior muscles is a rare condition. We present a case of congenital absence of bilateral tibialis anterior muscles in a 6-year-old boy who presented with an abnormal gait. He was previously diagnosed to have bilateral congenital talipes equinovarus (CTEV) deformity for which he underwent corrective surgery two times. However, he still had a residual foot problem and claimed to have difficulty in walking. On examination, he walked with a high stepping gait and muscle power of both lower limbs was 5/5 on the medical research council scale (MRCS) except for both ankle dorsiflexors and long toe extensors. The sensation was intact. Magnetic Resonance Imaging (MRI) study of both legs revealed that tibialis anterior muscles were not visualized on both sides suggestive of agenesis of the tibialis anterior muscles. The rest of the muscles appeared mildly atrophied. The electrophysiological study showed normal motor and sensory conduction in both upper and lower limbs. Electromyographic (EMG) study of the vastus medialis was within normal limit and no response could be elicited for EMG of tibialis anterior muscles suggesting possible absence of tibialis anterior muscles, bilaterally. The patient underwent split tibialis posterior tendon transfer to achieve a balanced and functional foot and was well on discharge. The present case describes the normal anatomy and embryology of tibialis anterior muscles as well as possible causes of its agenesis along with its clinical implications.
Ureteral triplication is a rare congenital anomaly of the urinary tract. We report a case of ureteral triplication with contralateral partial kidney duplication in a patient with right loin pain. The development and types of ureteral triplication and the features of type 2 ureteral triplication on intravenous urography and magnetic resonance urography are described.
Complete trisomy 9 is a lethal diagnosis and most fetuses diagnosed thus die prenatally or during the early postnatal period and majority of such cases have been known to end in spontaneous abortion in the first trimester itself. One such rare survival of fetus ending in normal delivery and surviving until 20 days is reported here detailing the clinical manifestations of the child during the period of survival. The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and also webbed neck, characteristic of this trisomy 9 syndrome.
The occipital sinus (OS) lies in the attached margin of the faix cerebelli in the internal occipital crest of the occipital bone. The OS extends from the foramen magnum to the confluence of sinuses. Standard textbooks and research reports do not describe in detail any variation in the groove for the occipital sinus.
We present two siblings from a consanguineous Malaysian family with multiple skeletal abnormalities, anterior segment anomalies of the eye and early lethality. These features are consistent with a syndrome first described by Al-Gazali and we provide further delineation of the syndrome.
Matched MeSH terms: Anterior Eye Segment/abnormalities*; Bone and Bones/abnormalities*
The pancreas is a soft lobulated gland situated transversely across the upper part of the posterior abdominal wall. Its parts include the head, neck, body and tail. Annular pancreas is a rare condition where the head of the pancreas surrounds the second part of the duodenum like a ring.
Dens invaginatus (DI) and gemination are two developmental abnormalities that are well reported in the dental literature, but their coexistence in a single tooth is rare. Such situations worsen the risk factors associated with these anomalies, and the treatment plan should be customised as they possess altered morphology and anatomy. A 19-year-old girl came for evaluation of a cracked tooth in the front region of the upper jaw. The tooth showed clinical features of gemination and radiographic features of DI, and was diagnosed as DI in geminated maxillary lateral incisor. The differential diagnoses based on clinical appearance without radiographic investigation may warrant the treatment approach if these two abnormalities coexist in a single tooth. The report also highlights the importance of three-dimensional imaging in diagnosis and treatment planning of teeth with altered pulp canal anatomy. There are few reported cases in the literature detailing the treatment options for these two anomalies occurring in the same tooth.
A single nostril associated with alobar holoprosencephaly is a rare congenital lesion. This paper reports two female term neonates with holoprosencephaly. The first neonate asphyxiated at birth had a single nostril, hypotelorism, posterior cleft palate, inferonasal coloboma of the iris and disc and persistent tunica vasculosa lentis. The other neonate had cleft lip and palate and recurrent convulsions. Both neonates had gross motor and developmental delay. Cranial sonography and CT scan showed features consistent with alobar holoprosencephaly. Karyotyping for the first neonate and her family members was normal. Both of them were treated conservatively and supervised.
An investigation of the prevalence and distribution of hypodontia was carried out in Malaysian children between the ages of five to fifteen years. Hypodontia occurred in 2.8 per cent of these children. A greater number of females were found to have hypodontia, the ratio of affected females to males is 1.6:1. The teeth most frequently missing were the maxillary lateral incisors followed by the mandibular lateral incisors, then the mandibular second premolars. The aetiology of the condition is discussed. It is noteworthy that studies showing the lower second premolars to be most commonly missing have younger subjects. This suggests delayed development of these teeth in some individuals.
Of the five diseases generally recognised as causing congenital defects, viz., toxoplasmosis, rubella, cy tomegaloviral infection, herpes simplex and syphilis (TORCHES) studied in Malaysia, rubella was found to be the most important. A total of 574 children with features of congenital rubella syndrome (CRS) were examined for rubella-specific IgM (in infants four months and below), and for rubella HAl antibodies (in children six months to four-years-old), and compared with 374 normal children of the same age groups. Whereas the prevalence rate of rubella in normal children was only 1.3%, in children with CRS (multiple defects) it was 87.3%; with congenital heart disease 71.0%; with congenital cataract 64.0%; with deafness 60.1%; with rash 30.8%; with hepatomegaly 17.1%; with mental retardation 4.1 %. Congenital rubella was not important as a cause of neonatal jaundice (0.9%)
and CNS defects (0%).