Precocious Puberty Associated with Oral-Facial-Digital Syndrome Type I

ABSTRACT. A girl with the oral-facial-digital syndrome type I (OFD I) developed precocious puberty at early infancy. This is presumed to be due to a hamartoma in the tuber cinereum region. Hypothalamic hamartomas have not been described in OFD I earlier, wheras lingual hamartomas are a common feature in this condition.     

Fryns Syndrome in a Girl Born to Consanguineous Parents

ABSTRACT. An overweight female newborn with multiple congenital anomalies died shortly after birth. The parents were cousins. The following abnormal findings were noted: Broad, square-shaped head with flat nose, misshapen ears, cleft palate, receding chin, short neck with additional skinfolds, disproportionately short limbs, transverse palmar creases, distal digital hypoplasia with hypoplastic finger- and toenails. Autopsy disclosed a number of further malformations including: dysplasia of the hippocampus, atypical lobation of the lungs with cystic-adenomatoid malformation of the left upper lobe, malrotation of the intestine, bilateral cystic renal dysplasia, bilateral atretic ureters plus a right accessory hydroureter, hypoplastic urinary bladder, uterus and vagina duplex and elongated, partly cystic ovaries. The pattern of malformations in this girl is very similar to that of 7 previously reported patients including two sets of siblings and one instance of parental consanguinity. All patients died shortly after birth. For proper genetic counselling and for prenatal ultrasonographic diagnosis in a further pregnancy, it is important to recognize patients with the Fryns syndrome.     

The Goldston Syndrome: Report of a Case

We present a case of the Goldston syndrome—that is, cystic renal dysplasia and the Dandy- Walker malformation. The condition was diagnosed by ultrasound in a 635 g fetus in the seventeenth week of gestation. Ultrasound studies showed the fetal head to be somewhat enlarged with slight dilatation of the lateral ventricles and marked dilatation of the fourth ventricle. The kidneys were symmetrically enlarged and multicystic. Autopsy revealed evidence of the oligohydramnios syndrome. The kidneys were typical of the Goldston syndrome as were the microscopic lesions in the liver. To our knowledge this is the first reported case in which this diagnosis was made during intrauterine life.     

Consultation System for Congenital Malformation Syndrome*

ABSTRACT Accurate diagnosis of a specific birth defect is a necessary prerequisite to a plan for management of an affected infant, as well as genetic counselling for the parents. But it requires much knowledge on the part of the physician about birth defects from textbooks or journals. Remembering each diagnostic model of a particular birth defect is no easy task, because birth defects by whatever definition exhibit great variety or complexity, and often overlap. With these problems in mind, we have been developing a consultation system for congenital malformation syndromes, which is composed of a knowledge data base and an inference‘engine.’Here our consultation system will be introduced, and several points to put the system into practical use will be mentioned.     

Pathogenesis of a Bisdiamine-Induced Malformation Complex in Rat Resembling DiGeorge Syndrome

Abstract Administration of the antispermatogenic agent bis-diamine (N, N'-bis-(dichloroacetyl)-1, 8-octamethylenediamine) to pregnant rats produced a malformation complex resembling DiGeorge syndrome in man. The malformations consisted of hypoplasia or aplasia of the thymus, persistent truncus arteriosus, tetralogy of Fallot, aberrant subclavian artery and other cardiovascular anomalies, as well as hypoplasia of the parathyroid gland, thyroid gland, and the spleen. The malformation complex appeared with a high incidence when the drug was administered on day 9.5 or day 10 of gestation.
Since the connective tissues of the thymus, aorticopulmonary septum, smooth muscles of the media of the aortic arch artery, and connective tissues of the parathyroid and the thyroid glands, are of neural crest origin, and since the time of their migration is around day 10 of gestation, we postulate that the action of bis-diamine might be involution of the migration of the neural crest cells and of its pathways.
We further suggest from the findings of persistent atrioventricular canal and hypoplasia of the spleen, that the drug must have also affected the growth of mesenchymal cells, which originate from the endocardial epithelial cells.     

Cardiac Surgery for Kartagener Syndrome

Two patients (one girl, one boy) with Kartagener syndrome (situs inversus, bronchiectasis, sinusitis), despite pulmonary problems and associated congenital cardiac anomalies, were operated on at the ages of 4 years and 7 years, respectively. They had had previous palliative treatment at the age of 3 months and 1.3 years, respectively. Both postoperative periods after total correction were without significant complications. Long-term follow-up was available for 9 and 19 years, respectively, with no manifestations of heart insufficiency. Both patients are physically active, and neither requires cardiac medication. Patients with Kartagener syndrome and associated congenital cardiac anomalies can successfully undergo multiple cardiac operations with good long-term outcome.     

Partial Trisomy 3q (3q25→qter) Syndrome in Two Siblings

ABSTRACT. Two cases of trisomy 3q25 → qter are reported. The features of the partial trisomy 3q and the differences from and similarities to the mucolipidosis II and Cornelia de Lange syndromes are discussed.     

Chondrodysplasia punctata in a nine-year-old girl presenting as “Unclassified Multiple Malformation Syndrome”

A girl with chondrodysplasia punctata who showed changes consistent with Unclassified Multiple Malformation Syndrome at the age of 9 years is presented. The disease could not have been recognised had not the neonatal films been presented.     

Hormonal Changes during Development in Turner's Syndrome

The hormonal changes observed during infancy, childhood and adolescence in patients with Turner's syndrome are reviewed, with particular emphasis on gonadotrophins and GH. The relative roles of gonadal insufficiency, maturation of the CNS and disturbed body composition (i.e. obesity) are discussed with respect to the endocrine findings.     

Enlargement of the Tongue in Sudden Infant Death Syndrome

Anatomic details of the infantile oropharynx and relationships to possible airway obstruction in sudden infant death syndrome (SIDS) are understood incompletely. Tonkin recognized this in 1975, suggesting that enlargement of the tongue might be important in SIDS, within the context of other anatomic and physiologic factors unique to early life. We therefore conducted a morphometric study of the tongue in 100 victims of SIDS and 36 control infants; the latter group consisted of infants with the same range in age and body size who had grown normally and died acutely. Highly significant differences in tongue weight, width, and thickness were demonstrated between the two groups by linear regression and analysis of covariance. Two multivariate techniques, stepwise discriminant analysis and factor analysis, identified marked discordance between somatic and lingual size in SIDS and a statistical uniqueness in tongue thickness. Certain explanations for lingual enlargement in SIDS were ruled out: redistribution of fluid and other effects of death, postmortem interval, duration and mode of feeding, and smallness of control tongues. At present, the functional significance of these observations is unclear. The effects of both normal and increased tongue size on airway patency are, however, widely recognized. Further studies of the enlarged tongue, addressing such topics as in situ anatomy and developmental mechanisms, are necessary to establish the potential for pathophysiologic consequences in SIDS.     

Campomelic Syndrome Associated with Potter's Syndrome and Car diosplenic Syndrome

ABSTRACT Campomelic syndrome is a heterogeneous group of disorders characterized by short-limbed dwarfism with congenital bowing or bending of the long bones particularly in the lower limbs and is frequently associated with a variety of non-skeletal manifestations. Two distinct types are (1) long-limbed campomelic dysplasia with bent bones of normal length and width: (2) short-limbed campomelic dysplasia in which the bent bones are short and wide. We reported an autopsy case of this syndrome.
This male baby with gestational age of 32 weeks was born to a mother with placenta previa, showing abdominal distention and short-limbed appearance. Postmortem examination revealed bilaterally enlarged Potter type 1 polycystic kidneys, a pancreatic cyst, and two spleens in the abdominal cavity. Both lungs were hypoplastic and the heart exhibited multiple congenital anomalies such as double outlet right ventricle, pulmonary artery hy-poplasia, mitral atresia, absence of ductus arteriosus, and inferior vena cava draining into the left atrium. Characteristically both femur bones were curved at proximal two-thirds with slightly shortened lengths. Both humeri also showed bending of distal one-third. Other chondro-osseous abnormalities such as small epiglottis, narrow thorax, dolichoce-phaly, and bilateral equinovarus deformity were noted. These findings were compatible with campomelic dysplasia of long-limbed type accompanying unusual sets of non-skeletal manifestations of Potter's syndrome and cardiosplenic syndrome. Key words: campomelic syndrome, Potter's syndrome, cardiosplenic syndrome     

Diffuse Pulmonary Arteriovenous Malformation in a Child with Polysplenia Syndrome

Pulmonary arteriovenous malformation (PAVM) is usually seen as a well-circumscribed cysticmass. In this communication we describe a diffuse arteriovenous malformation in a 5-month-old infant. The lesion was seen only at the microscopic level and was associated with abdominal heterotaxy, atrial situs solitus, polysplenia, interrupted inferior vena cava, atrial septal defect, and atrioventricular canal. This uncommon association may be within the spectrum of polysplenia syndrome.     

Acute Febrile Neutrophilic Dermatosis (Sweet's Syndrome) in Myelodysplastic Syndrome

This is the first report of the rare association of acute febrile neutrophilic dermatosis (Sweet's syndrome) and myelodysplastic syndrome (MDS) in a child. The skin lesions showed a dramatic response to colchicine.     

Double accessory tongue

The authors report a case of double accessory tongue in a female neonate. The embryology of this extremely rare congenital anomaly, along with the diagnostic approach followed and the surgical intervention undertaken, are discussed. The surgical procedure was radical and led to good functional and esthetic results. Correspondence to: F. S. Chiarenza     

The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies

The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy. Beside the unusual severity of the renal abnormalities, both cases had an imperforate anus in addition to the more common genital abnormalities.     

Contribution of Long-QT Syndrome Genetic Variants in Sudden Infant Death Syndrome

A cohort of 52 French unrelated infant cases who died unexpectedly before they reached 12 months of age was blindly investigated to better quantify the contribution of long-QT syndrome (LQTS) genetic variants in French cases of sudden infant death syndrome (SIDS). After a standardized autopsy protocol, a blinded molecular screening of the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was performed on each case. These postmortem investigations enabled us to reclassify 18 as non-SIDS cases, 32 as SIDS cases, and 2 as suspected SIDS cases. Among the 18 non-SIDS cases, no LQTS mutation was identified. In contrast, our results led to a possible explanation for the death of at least three infants in the SIDS cohort. Half of the LQTS gene variants identified were located on the SCN5A gene. This study confirms that LQTS mutations may represent one of the leading genetic causes of SIDS. If autopsy fails to provide an explanation for an unexplained infant death, medicolegal investigation should be extended with a molecular screening of major LQTS genes. Identification of more LQTS mutations in SIDS cases could provide new insights into the pathophysiology of SIDS and, consequently, reduce the number of unexplained sudden infant deaths.     

A Case of Neonatal McCune-Albright Syndrome with Cushing Syndrome and Hyperthyroidism

ABSTRACT. We describe a female newborn infant with McCune-Albright syndrome. In addition to the cutaneous pigmentation, she had apparent manifestations of hyperthyroidism and Cushing syndrome since birth. X-ray examinations showed many scattered lucencies in multiple bones. Endocrinological findings were as follows: serum T4 276 nmol/l; free T4 125 pmol/l; TSH <1 mU/l; serum cortisol >2210 nmol/l; plasma ACTH < 10 pg/ml; urinary free cortisol 865 nmol/day; estradiol 0.36 nmol/l. Regardless of treatment with antithyroid drugs and an inhibitor of 3β-hydroxysteroid dehydrogenase, the patient died of cardiac failure at the age of 4 months. Autopsy findings included a follicle cyst in the right ovary and multinodular hyperplasia in the thyroid and both adrenals. To our knowledge such a severe neonatal form of McCune-Albright syndrome has not been described in the literature.     

Outbreak of Kawasaki Syndrome in Finland

ABSTRACT. During a ten-month period from June 1981 to March 1982 83 patients with Kawasaki syndrome were diagnosed in Finland. The attack rate was 26/100000 children under five years of age, corresponding to an annual attack rate of 31/100000 children under five years. The course of the outbreak suggested geographic spreading. 20 % of the patients had clinical and ECG evidence of carditis, and ECG abnormalities were found in 59 % of the patients. One patient died from a ruptured coronary aneurysm. Neurologic manifestations were seen in 10 % of the patients. This is the first reported outbreak of Kawasaki syndrome outside Japan, Korea and the United States of America.     

儿童Gitelman综合征6例

目的探讨儿童Gitelman综合征的临床特点及其与Bartter综合征的鉴别。方法总结本院住院的6例儿童Gitelman综合征的临床表现、实验室检查、治疗方法及效果,回顾分析Gitelman综合征及Bartter综合征相关文献。分析二者发病机制、临床表现治疗等不同点。结果6例均起病早,婴幼儿期起病,以生长迟缓、无力及抽搐为主要表现,血压正常。实验室检查主要表现低血钾、低血镁,代谢性碱中毒,血浆肾素、血管紧张素明显升高,醛固酮升高不明显或正常。治疗需补钾、补镁症状才能改善。结论Gitelman综合征与Bartter综合征临床表现及发病机制均有不同,相应治疗也不同。