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Biomedical subjects

P Merlob

Publications and source records attributed to P Merlob.

At least 145 records · Page 8Linked to original sources
PubMed1987

Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings.

We describe two patients, a father and his daughter, with the cerebro-costo-mandibular syndrome. New manifestations not previously described include microstomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. The presence of hydrocephaly in the proposita and spina bifida in the father may be other manifestations of neuraxial involvement in this syndrome. The first intrauterine ultrasonographic documentation of this syndrome showed polyhydramnios and, especially, the very unusual shape of the ribs, which were short and defective. Most characteristics of the pedigree point to autosomal dominant inheritance. The great variability of inheritance and expressivity of the very few documented familial cases described in the literature, together with the great frequency of sporadic cases, indicates genetic heterogeneity of this syndrome.

Abnormalities, Multiple↗
PubMed1987

Postaxial polydactyly in association with neurofibromatosis.

Von Recklinghausen neurofibromatosis may present many skeletal abnormalities as common features. We describe a family with postaxial polydactyly and neurofibromatosis, an association which has not been previously reported. The special characteristics of postaxial polydactyly of this family were its bilateral and symmetrical appearance, its limitation only to males, simultaneous presence of types A and B in the same patient, and its occurrence in both hands and feet. Postaxial polydactyly type A appeared only in the affected neurofibromatotic members of this family.

Female↗
PubMed1987

Epispadias with complete prepuce and phimosis in a neonate.

A rare type of epispadias in a neonate is described in which a complete phimotic prepuce was present. In this situation, the accurate diagnosis is very difficult and may be easily overlooked in the neonatal period. The broad, spadelike glans, the dorsally directed prepucial opening, and the urinary stream are signs previously described. The special shape of the raphe penis and the depression between the corpora cavernosa felt by palpation of the glans are useful new clinical signs to suspect this type of epispadias.

Epispadias↗
PubMed1987

Cervico-occipital teratoma in the newborn infant. Case report.

A case of cervico-occipital teratoma in a neonate is presented. This is the third reported case of teratoma in this unusual location and the first excised during the neonatal period. The radiographic and histological examination, treatment, and follow-up findings in this case are presented, along with a review of the literature.

Head and Neck Neoplasms↗
PubMed1986

The diagnosis of Dubowitz syndrome in the neonatal period--a case report.

We present an infant with Dubowitz syndrome diagnosed at birth and followed for 2 years. Presence of the syndrome was suspected at birth on the basis of the anthropometric data and peculiar facial appearance. However, during the follow-up period some changes in the appearance have taken place. It is suggested that the neonatal anthropometric measurements are important diagnostic criteria for Dubowitz syndrome.

Age Factors↗
PubMed1986

Treatment of hypertension during pregnancy with hydralazine monotherapy or with combined therapy with hydralazine and pindolol.

Forty-four consecutive patients referred for treatment because of hypertension (greater than 150/90 mmHg) occurring during pregnancy were randomly allocated to one of two treatment groups, hydralazine alone (n = 21) or hydralazine combined with pindolol (n = 23). Satisfactory blood pressure control (diastolic pressure less than 90 mmHg) was achieved in 86% of patients receiving hydralazine alone and 91% of those on combined therapy. Although the treatment did not lower the overall incidence of hypertensive complications it appeared to delay the onset of such complications until successful surgical intervention was possible. Fetal outcome was similar in both groups and there was no perinatal mortality in this high-risk population. Although blood pressure control was similar in both groups of patients, combined therapy with hydralazine and pindolol can be considered to be superior to hydralazine monotherapy, since in patients treated with the combination the incidence and intensity of troublesome side-effects was markedly lower.

Adult↗
PubMed1986

Types of hymen in the newborn infant.

The incidence of various types of hymenal shape, its orifice and their interference with spontaneous vaginal discharge were investigated during the routine physical examination of 333 female infants within the first 24 h of life. A smooth hymen with a central orifice was observed in 53.5% of the female neonates, a folded hymen with a central orifice in 27.3%; folded hymen with eccentric orifice in 4.5%; an anterior opening of the hymen in 10.8%; posterior opening in 0.6%; hymenal band in 3%; almost imperforate hymen in 0.3% of the newborns. The presence of anterior opening, posterior opening, hymenal band or almost imperforate hymen may interfere with free vaginal discharge. A ruffled, irregular hymen and a hymenal band require a careful investigation for other genital malformations.

Female↗
PubMed1986

Congenital depression of the neonatal skull.

Congenital depression of the neonatal skull has had an incidence of 0.1% (1/10 000) in our newborn population during the past 8 years. These skull depressions have two pathogenetic types: deformation without fracture and fracture accompanied by depression. The cause of skull depression being the pressure exerted by the digits and fist of the newborn on his skull has not been previously reported. The treatment of choice for selected cases is nonsurgical elevation with an obstetric vacuum extractor. A CT scan should be performed prior to this treatment to rule out intracranial complications such as hemorrhage.

Birth Injuries↗
PubMed1986

Type II syndactyly or synpolydactyly.

A new family with syndactyly type II or synpolydactyly is described with 16 affected members in six generations. No other major skeletal or extraskeletal malformations were present, but the association with minor local anomalies may be a common feature. Various metacarpal or metatarsal abnormalities may be part of this type of syndactyly. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance and the frequent occurrence of non-manifesting heterozygotes resulting in 'skipped generations'.

Adult↗
PubMed1986

Ratio of crown-rump distance to total length in preterm and term infants.

The known measurements for the determination of body proportions cannot be used practically in the neonate. The ratio of crown-rump distance to total length appears the most useful index for objective evaluation of disorders that influence body proportions in the neonate. Normal standards for this ratio in newborn infants from 27 to 41 weeks' gestation are presented in relation to gestational age and birth weight.

Body Height↗
PubMed1986

Differential leukocyte count in infants of diabetic mothers. Increased band count associated with macrosomia.

The differential leukocyte count was studied within the first 24 hours of life in 115 infants of diabetic mothers (IDMs) appropriate for gestational age (AGA), 16 IDMs large for gestational age (LGA), 104 infants of non-diabetic mothers (INM's) AGA, and 22 INMs-LGA. A significant "shift to the left" was found in IDM's-LGA only. The usual cause of "shift to the left" such as maternal hypertension or fever, respiratory distress syndrome, meconium aspiration, neonatal asphyxia, sepsis, convulsions, or hypoglycemia could not explain this finding. It is hypothesized that increased glucocorticoid secretion may possibly play a role.

Adult↗