Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature.

We report two unrelated infants with cephaloskeletal dysplasia or Taybi-Linder syndrome, also referred to as osteodysplastic primordial dwarfism Type III. They presented with peculiar facial features, microcephaly and skeletal and cerebral abnormalities documented radiographically and with cranial MRI and/or CT. Some dissimilarities were observed in the skeletal findings between the two patients, most likely reflecting phenotypic variability within the same disorder. Some radiographic features were shown to evolve with time in both patients. Also of interest is the unusually long survival of these patients, more than 4 years in the first and of over 6 years in the second.

Double-layered manubrium sterni in young children with diastrophic dysplasia.

A review of the roentgenograms, which included a lateral view of the sternum in 12 children with diastrophic dysplasia, revealed that 4 children (2 newborns, and 2 aged 1.5 years) had a double-layered manubrium with the accessory ossification located ventral to the normal manubrium. In the other 2 children, aged 5 and 11.5 years, the manubrium showed a deformity consistent with a previous double-layered manubrium in which the ventral ossification had fused with the normal dorsal element. The nature of this anomaly is not certain, but a survey of the embryology of the manubrium raises the possibility of a persistence and ossification of a primitive midline embryonic structure that normally is resorbed in its cartilaginous state.

Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.

BACKGROUND: This paper reports three children with short stature: developmental coxa vara unilateral in the first case and bilateral in the other two; somewhat squared and "ovoid" vertebral bodies in the first patient, and normal to slightly tall vertebral bodies in the third; metaphyseal changes in some long tubular bones including bone fragments similar to the corner fractures seen in child abuse in all three patients. MATERIALS AND METHODS: The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral "coxa vara"; their brother, also of short stature, had bilateral coxa valga with otherwise normal femoral heads and necks, and mild metaphyseal changes associated with two minute "corner fractures" in the proximal metaphysis of the left tibia. RESULTS: A review of reported cases of developmental coxa vara associated with spondylometaphyseal dysplasia revealed that simulated corner fractures were present in most instances.

Occipital osteodiastasis: presentation of four cases and review of the literature.

BACKGROUND: Occipital osteodiastasis (OOD) is a form of birth injury characterized by a tear along the innominate (posterior occipital or supraoccipital-exoccipital) synchondrosis with separation of the occipital squama from the lateral or condylar parts of the occipital bone. The condition, frequently mentioned in the older literature as relatively common and invariably fatal, has been attributed to excessive pressure exerted over the subocciput during delivery, resulting in a forward and upward displacement of the anterior margin of the occipital squama into the posterior cranial fossa, with posterior fossa hemorrhage and other intracranial complications. Most likely as the result of improved obstetric techniques, this severe form of OOD has become quite rare or non-existent. A less severe form compatible with survival has been suggested, but so far only one case has been reported in some detail. MATERIALS AND METHODS: This paper reports the occurrence of this less severe form of OOD diagnosed roentgenographically in two infants who survived: a newborn and a 3-month-old child. Two additional cases of a similar lesion but of postnatal onset are also described: a 3-month-old infant with the diagnosis of child abuse who also survived and a 2-year-old girl who was involved in a fatal motor-pedestrian collision. RESULTS: Based on cases in the literature and the present material, three forms of OOD can be considered: a classic, fatal form; a less severe variant compatible with survival; and OOD of postnatal onset. The diagnosis can be made on lateral skull or cervical spine roentgenograms showing specific changes in the area of the innominate synchondrosis.

Cervical lung protrusions in children.

Two main types of cervical lung protrusion are seen in children. The first type, which is very uncommon, is a true herniation of the lung apex through a tear or defect in Sibson's fascia usually caused by a direct external local trauma. The second type, here called for convenience simple lung protrusion, is seen not uncommonly in lateral neck roentgenograms, especially in the first years of life, and is considered to be a normal finding or an anatomical variant. In the vast majority of cases these simple lung protrusions resolve spontaneously in early life; cases that fail to resolve may increase in size and become clinically significant. This paper reports on 54 children in whom the simple form of cervical lung protrusion was observed as an incidental finding in routine lateral neck roentgenograms, with a review of previous instances of cervical lung protrusions in children described in the literature.

Congenital glenoid dysplasia.

Glenoid dysplasia is an anomaly of the scapula characterized by underdevelopment of the bony glenoid and adjacent part of the scapular neck which may be seen as a primary isolated condition, in patients with multiple anomalies or ill-defined syndromes, in well-described syndromes, in mucopolysaccharidoses and related conditions, and in certain skeletal dysplasias. The general subject of glenoid dysplasia is reviewed with reference to descriptions in the literature and personal observations.

The Oddono's sulcus and its relation to the renal "junctional parenchymal defect" and the "interrenicular septum".

The anatomy responsible for the sonographic diagnosis of the renal "junctional parenchymal defect" and "interrenicular septum" is caused by perirenal fat along a line of incomplete fusion of two primary renal lobes. Studies using CT, MRI and cadaver observations are presented. "Oddono's sulcus" is suggested as a name for the changes in honor of the author who first described these anatomic findings.

Migration of jugular or subclavian venous catheters into inferior tributaries of the brachiocephalic veins or into the azygos vein, with possible complications.

Six children are reported in whom a central venous catheter from the internal jugular or the subclavian vein migrated to an anomalous position: the left superior intercostal vein in the first two cases, the thymic vein in the third, and the azygos vein in the last three. Resultant complications in five cases were: extravasation of the infusate in the first and third case; local vascular stenosis or complete vascular occlusion in the second and fifth case; and obstruction of the azygos arch due to local thrombosis and possible stenosis, with a likely extravasation of the infusate, in the sixth case. The mediastinal vascular anatomy related to these central venous catheters is reviewed with reference to similar and related cases in the literature.

The various types of anorectal fistula in male imperforate anus.

The purpose of this paper is to provide a review of the anorectal fistulas occurring in male imperforate anus, with a suggested classification based on the site of termination of the fistula, namely, the bladder, the urethra, and the perineum. The fistulas included in these categories are discussed in some detail, with reference to previous cases or descriptions in the literature and with some personal observations.

Congenital defects of the posterior arch of the atlas: a report of seven cases including an affected mother and son.

PURPOSE: To describe our experience with congenital anomalies of the posterior arch of the atlas, with a review and classification of these defects and a note on their clinical significance. METHODS: We report six children and one adult, the mother of one of the children, with an anomalous posterior arch of the atlas. The diagnosis was made on lateral films of the neck. Three patients also had axial CT of the cervical spine. RESULTS: The anomalies encountered in the seven patients were absence of the posterior arch of the atlas (four patients), bilateral clefts (two patients), and unilateral cleft (one patient). In three patients the anomaly was discovered as an incidental asymptomatic finding; three other patients presented with transient neck pain or transient neurologic symptoms after head and neck trauma, and one patient (an adult woman) described neck symptoms of 1-year duration. CONCLUSIONS: On the basis of these seven cases we conclude that congenital defects of the posterior arch of the atlas may be discovered as incidental asymptomatic findings, but symptoms occurring after trauma to the head and neck or spontaneously also may be encountered.

Imperforate anus associated with a recto-bulbar-cutaneous fistula.

This is the report of two newborn boys with imperforate anus associated with a long rectocutaneous fistula running deep into the scrotum and communicating, in its midportion, with the bulbar urethra. The findings are compared with those of a somewhat similar case in the literature, with some speculations as to the possible embryogenesis of the lesion.

Fractures of the acromion in young children and a description of a variant in acromial ossification which may mimic a fracture.

We report on six children, from 2 to 19 months old, with a defect across the root of the acromion (basiacromion) diagnosed as a fracture in four and as an anatomical variant (separate ossification center for the lateral half of the basiacromion) in the other two.

Urethro-ejaculatory reflux during cystourethrography in 25 children.

Cystourethrography in 25 children 0 to 13 years old demonstrated reflux of contrast material from the urethra or bladder into 1 or both ejaculatory ducts. The main findings observed in these patients are discussed and the literature is reviewed.

Caudal regression versus sirenomelia: sonographic clues.

Seven cases with the pathologic/autopsy diagnosis of caudal regression or sirenomelia in which antenatal sonography had been performed were reviewed. The three patients with caudal regression had similar findings on antenatal sonogram, including normal or increased amniotic fluid, mild dilation or normal urinary systems, nonfused extremities, and sacral agenesis. In the four patients with sirenomelia, common sonographic findings included marked oligohydramnios, suspected renal agenesis, and sacral agenesis. A history of maternal diabetes was elicited in all patients with caudal regression and in none of the patients with sirenomelia. Findings confirm recent articles in pediatric pathology suggesting that caudal regression is a separate entity, distinct from sirenomelia.

Congenital double pylorus with accessory pyloric channel communicating with an intraluminal duplication cyst of the duodenum.

Congenital double pylorus is a rare anomaly in which two pyloric openings connect the antrum of the stomach to the duodenal bulb. We report an unusual case of congenital double pylorus in which one of the channels led to an intraluminal cystic duplication of the duodenal bulb. An embryologic relation between congenital double pylorus and antroduodenal duplications is suggested.

Radiographic appearance of the pars nuda urethrae in the voiding urethrogram.

The pars nuda is the most anterior segment of the male membranous urethra, extending from the urogenital diaphragm to the urethral bulb. It differs from adjacent urethral segments in being incompletely supported by corpus cavernosum and musculature. Usually, this part of the urethra is difficult to distinguish in a voiding urethrogram. Occasionally, however, it may stand out clearly in certain phases of urethral muscular activity, resulting in a roentgen picture which may mimic an abnormality.

Air collection in the retropharyngeal soft tissues observed in lateral expiratory films of the neck in 9 infants.

This is the report of 9 infants in whom a lateral roentgenogram of the neck exposed in expiration showed an increase in the thickness of the retropharyngeal soft tissues with a small collection of air within these soft tissues simulating a retropharyngeal abscess. Both findings disappeared in inspiration consistent with normal variants.

From small pelvic outlet syndrome to sirenomelia.

We report 5 newborns with a contracted lesser pelvis, imperforate anus (severely stenotic and ectopic anus in 1 case), absent or rudimentary urinary tract, and defective or absent external genitalia, vagina, and uterus but normal gonads. The first 2 patients had small pelvic outlet syndrome (SPOS). The findings in the third patient, a possible transition to sirenomelia, were more severe and included malposition of the penis to the posterior sacral area. The fourth and fifth patients had sirenomelia. The remarkable similarity of many abnormalities observed in these cases and related material in the literature suggests that SPOS and sirenomelia may be part of the same malformation complex (SPOS/sirenomelia complex).

Umbilical vein draining into the inferior vena cava via the internal iliac vein, bypassing the liver.

This is the third report of an anomalous umbilical vein draining ectopically in a left pelvic vein, probably the left internal iliac, and through the inferior vena cava into the right atrium. The anomaly was encountered in a newborn infant with nonimmune hydrops fetalis, hypertrophic cardiomyopathy, multiorgan failure and possibly Noonan Syndrome.

Esophageal foreign bodies in children with vascular ring or aberrant right subclavian artery: coincidence or causation?

This is the report of 4 children, 2 with a vascular ring and 2 with an aberrant right subclavian artery, who presented with an esophageal foreign body in the proximal esophagus above the level of the vascular anomaly. A deep erosion of the esophagus at the site of the foreign body was demonstrated in 2 patients.