Brachmann-de Lange syndrome
This condition is described sometimes as one syndrome, sometimes as two. It is here entered as one entity.
A rare form of oligophrenia comprising microcephaly with severe mental retardation, short stature, and characteristic facies. Craniofacial features consist of a clown-like appearance with large, low and curly eyelashes, micrognathia, thin lips and downturned upper lip (carp mouth), cleft lip and palate, optic atrophy, an upturned nose, and hirsutism. The most striking feature of the syndrome is that all the children look alike, like brothers and sisters.
Often severe dysplasia of extremities. There is a lobster-claw deformity of the hand, small hands and feet with small and tapered digits, syndactyly between the second and third toes, proximal insertion of the thumb, short and curved fifth finger, phocomelia, and oligodactyly. various other malformations. Cutis marmorata, circumoral cyanosis, generalized hypertrichosis, hypoplastic nipples and umbilicus, and simian creases are the principal dermatological features. Low birth weight after full-term pregnancy and a low-pitched growling cry are the early symptoms. The majority of those affected have diminished sucking and swallowing capacity, failure to thrive, predisposition to respiratory tract infections, and frequent vomiting with aspiration pneumonia. Mental retardation is usually severe. Most patients die before the age of 6 years. The aetiology is unknown.
Cornelia de Lange's patients were two girls with unusual facies and mental retardation, one 17 months and the other 6 months, who were admitted within weeks of each other to Emma Children's Hospital. The first child had pneumonia. Her first year of life had been characterized by a lot of feeding difficulties and she was very small for her age, with a proportionately smaller head circumference. The second child had the same medical problem, and their resemblance to each other was remarkable.
De Lange termed the condition "un type nouveau de dégénération (typus Amstelodamensis)". This account attracted little attention but in 1941, after she had presented a further case to the Amsterdam Neurological Society, the disorder gained recognition.
Winfried Brachmann had described a similar patient in 1916. His report was based on the clinical and autopsy features of an who died of pneumonia at the age of 19 days. Cornelia de Lange probably overlooked his report because he concentrated on characteristics of the upper limbs and wrote on the facial symptoms less specifically.
In a review in 1985, John Marius Opitz (1935-) commented: "Brachmann's paper is a classic of Western Medical iconography, deserving to be commemorated in the eponym "Brachmann- de Lange syndrome." This conjoined eponym is now generally accepted, although the term "de Lange" or Cornelia de Lange's syndrome is also common.
- W. Brachmann:
Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitäten (Zwerghaftigkeit, Halsrippen, Behaarung).
Jahrbuch für Kinderheilkunde und physische Erziehung, 1916, 84: 225-235.
- Cornelia de Lange:
Sur un type nouveau de dégénération (typus Amstelodamensis).
Archives de médecine des enfants, 1933, 36: 713-719.
- J. M. Opitz:
The Brachmann-de Lange syndrome.
American Journal of Medical Genetics, New York, 1985, 22: 89-102.