Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had four or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included intrauterine growth restriction (IUGR) <10th percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.

[The hybrid operating room. Home of high-end intraoperative imaging]. / Der Hybridoperationssaal. Zentrum intraoperativer Bildgebung.

A hybrid operating room must serve the medical needs of different highly specialized disciplines. It integrates interventional techniques for cardiovascular procedures and allows operations in the field of orthopaedic surgery, neurosurgery and maxillofacial surgery. The integration of all steps such as planning, documentation and the procedure itself saves time and precious resources. The best available imaging devices and user interfaces reduce the need for extensive personnel in the OR and facilitate new minimally invasive procedures. The immediate possibility of postoperative control images in CT-like quality enables the surgeon to react to problems during the same procedure without the need for later revision.

Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias.

We report on a family with 2 affected males with the X-linked Simpson-Golabi-Behmel (SGB) syndrome. The propositus was a 33-year-old man with pre- and postnatal overgrowth, "coarse" face with hypertelorism, broad nose, wide mouth, malposition of teeth, submucous cleft, accessory nipples, broad hands with hypoplastic index finger nails, and operated left postaxial hexadactyly. From the age of 26 years he suffered from severe tachyarrhythmias, requiring recurrent defibrillations. The brother of the propositus was macrosomic at birth and had a similar facial appearance. In addition he had a pyloric stenosis and a 3/6 systolic murmur. He died at age 4 months. Cardiac defects and conduction disturbances are major components of the SBG syndrome and can be responsible for death in early infancy and perhaps for cardiac arrest in the adult.

OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.

We present 2 sibs with manifestations of oral-facial-digital syndromes (OFD) and Joubert syndrome. The index patient was the 5th child of healthy nonconsanguineous Turkish parents. At birth this female patient had large hydrocephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral frenula, cleft palate, hamartomas of the tongue, postaxial polydactyly of fingers, normal toes, and hypotonia. Cranial MRI showed hydrocephalus and Dandy-Walker malformation. The child had no psychomotor development, was unable to swallow and had severe seizures. She died at 2 months of recurrent apneic episodes. At birth the brother of the index patient showed prominent forehead, broad, deep nasal bridge, cleft palate, multiple hamartomas of the tongue, irregular alveolar ridges, retrognathia, bilateral postaxial polydactyly of the hands and feet, and broad halluces. He had an abnormal breathing pattern with phases of tachypnea and apnea. Cranial MRI showed hydrocephalus, hypoplasia of the cerebellar vermis, Dandy-Walker malformation, and hypomyelination of the corpus callosum. Renal ultrasonography demonstrated multiple small cysts. Ocular fixation was absent and he had a mild nystagmus.

[Nuclear magnetic resonance tomographic staging of tumors of the oral cavity, oro- and hypopharynx and the larynx. A comparison with computed tomography and sonography]. / Kernspintomographisches Staging von Tumoren der Mundhöhle, des Oro- und Hypopharynx sowie des Larynx. Vergleich mit Computertomographie und Somographie.

Thirty-six patients with tumours of the mouth, the oropharynx and hypopharynx and the larynx were examined by nuclear resonance tomography. The results were compared with the clinical findings of inspection and palpation and with CT and sonography, with respect to T and N classification. In seven patients the classification could be confirmed at operation. NMR provides very good anatomical detail and marked contrast between tumour and the surrounding tissues, particularly on T2 weighted images. NMR showed the best correlation with the clinical findings as regards the T classification and was the most accurate method, as confirmed by surgery. It is superior to CT and sonography for diseases in the oropharynx and hypopharynx. For the examination of the cervical lymphatics, sonography remains the recommended method.

[Schimmelpenning-Feuerstein-Mims syndrome and its neurologic manifestations. 6 personal cases and review of the literature]. / Das Schimmelpenning-Feuerstein-Mims-Syndrom und seine neurologische Symptomatik. 6 eigene Kasuistiken und Literaturübersicht.

The Schimmelpenning-Feuerstein-Mims-syndrome includes deformities and dysplasias of the skin, eyes, brain, skeleton, and heart. It may result from a malformation of the ectodermal and mesodermal blastoderm in the third week of gestation. We here report on 6 patients who presented between 1977 and 1993 in comparison with those cases in the literature. All children presented neurologic symptoms. The major symptom was a linear epidermal nevus. In addition we found mental retardation, convulsions, asymmetries of the cranial structures or dilated cerebral ventricles ipsilateral to the nevus. One child had a defect of the skull and scalp, a symptom not previously mentioned in the literature. Our patients exhibited a wide phenotypice spectrum ranging from mild to severe forms. Severe neurological symptoms were also found in patients despite minimal dermal involvement.

[Children's eating habits at breakfast and snacks between meals (author's transl)]. / Ernährungsverhalten von Kindern bei Frühstück und Zwischenmahlzeiten.

Detailed inquiries into the eating habits of 86 children attending schools and kindergartens was carried out and a nut-nougat cream spread was evaluated in a 14-day investigation. The selection of food for the snacks requires some correction according to these results e. g. for salt biscuits, sweets, soft drinks. 22% of the parents still compel their children to eat everything up, more than 1/3 leave the purchase of snacks to the children. The nut-nougat cream enjoys enormous popularity as a spread for bread so that even large food undertakings cannot face this development with equanimity. From the nutritional physiology aspect this product is only to be considered positively if spreading of any fat under it can be avoided -- a question of explanation and education, because only then will a superfluity of calories be prevented.

[A solitary central maxillary incisor and holoprosencephaly in siblings]. / Ein solitärer mittlerer oberer Schneidezahn und Holoprosencephalie bei Geschwistern.

In families in which holoprosencephaly seems to be inherited by a rare dominant autosomal mutation, some individuals exhibit a single central maxillary incisor (SCMI). This anomaly was considered a minimal manifestation of the gene for holoprosencephaly. We report on a family, in which one child suffered from median cleft lip and palate and alobar holoprosencephaly, whereas the other child only had a SCMI. In the father and his sister lateral upper incisors were absent. Therefore the question is raised as to whether this anomaly may be related to the same condition.

Percutaneous transarticular atlantoaxial screw fixation using a cannulated screw system and image guidance.

In 2000 a cannulated screw stabilization system for posterior cervical instrumentation was introduced in our department for use in complex cervical fixation procedures. A special feature of the system is the use of thin Kirschner wires for drilling the screw paths and then placing the self-drilling, cannulated screws securely over the wires. Percutaneous application of C1-C2 transarticular screws is possible through tubes. An optional "atlas-claw" provides additional stability in cases of C1-C2 stabilization. 17 patients (10 female, 7 male, mean age 60 years) with complex cervical disorders and instability of different origin were stabilized using the Neon System (Ulrich Co., Ulm, Germany). Pathology included atlantoaxial instability based on rheumatoid arthritis (n = 12), odontoid fracture (n = 4) and os odontoideum mobile (n = 1). Computed navigation (STN 4.0, Zeiss or vector vision spine, brain lab) was used in 14 cases. Transarticular C1-C2 screw fixation was performed in 14 cases (4 patients with direct C1 massa lateralis screw fixation), craniocervical fixation (C0-C2/C3) was done in 3 patients. Percutaneous application of the C1-C2 screws was used in 7 patients. Atlas claws were applied in 8 patients. There was one medial perforation of a C2 pedicle wall and one malposition of the screw in C2 without reaching the lateral mass of C1. After a mean follow-up of 9 months there were no hardware failures and stable fusion in those cases followed after 12 months or more. Clinical results were excellent or good in 14/16 patients. Cannulated screws are an effective alternative in complex stabilization procedures of the cervical spine. The presented system is technically comfortable and allows safe percutaneous screw application as well as inclusion of computed navigation with high accuracy.

[Scintigraphic panoramic imaging of the jaws]. / Szintigraphische Orthopandarstellung der Kiefer.

A method for the generation of a panoramic image from skeletal scintiscans of the jaws with the aid of a cylindrical projection of emission CT scans ist presented. Based on this "panoramic tomoscintigraphy" the jaw regions, arranged in the order of the arch segments, are evaluated numerically and the quantitative results are presented in a clearly organized form. The relative activity of each segment is computed relative to the corresponding contraletaral segment or to the average activity of the respective jaw. In the case of pathologic findings the respective segments are highlighted in the dental chart. A set of normal values with standard deviations has been generated using this method in 24 patients without evidence of any jaw pathology. Within the framework of the significance limit it was not possible to demonstrate any right/left asymmetry in the metabolic activities of the jaw bone.